{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T19:47:51Z","timestamp":1766087271931,"version":"3.41.2"},"reference-count":135,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T00:00:00Z","timestamp":1519948800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB\/CRC 1140"],"award-info":[{"award-number":["SFB\/CRC 1140"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2018.00043","type":"journal-article","created":{"date-parts":[[2018,3,2]],"date-time":"2018-03-02T04:17:55Z","timestamp":1519964275000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Update on Genetic Conditions Affecting the Skin and the Kidneys"],"prefix":"10.3389","volume":"6","author":[{"given":"Antonia","family":"Reimer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinghong","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Has","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2018,3,2]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"4981","DOI":"10.1073\/pnas.1619523114","article-title":"Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development","volume":"114","author":"Haller","year":"2017","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B2","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1146\/annurev-genom-090413-025540","article-title":"The genetics of skin fragility","volume":"15","author":"Has","year":"2014","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1016\/j.jaad.2014.01.903","article-title":"Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification","volume":"70","author":"Fine","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"2040","DOI":"10.1097\/01.ju.0000143200.86683.2c","article-title":"Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature","volume":"172","author":"Fine","year":"2004","journal-title":"J Urol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1007\/s00441-017-2623-y","article-title":"Renal-skin syndromes","volume":"369","author":"Has","year":"2017","journal-title":"Cell Tissue Res"},{"key":"B6","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.jaad.2009.03.052","article-title":"Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues","volume":"61","author":"Fine","year":"2009","journal-title":"J Am Acad Dermatol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","article-title":"Integrin \u03b13 mutations with kidney, lung, and skin disease","volume":"366","author":"Has","year":"2012","journal-title":"N Engl J Med"},{"key":"B8","doi-asserted-by":"publisher","first-page":"4375","DOI":"10.1172\/JCI64100","article-title":"Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome","volume":"122","author":"Nicolaou","year":"2012","journal-title":"J Clin Invest"},{"key":"B9","doi-asserted-by":"publisher","first-page":"3679","DOI":"10.1093\/hmg\/ddv111","article-title":"Crucial role of posttranslational modifications of integrin \u03b13 in interstitial lung disease and nephrotic syndrome","volume":"24","author":"Yalcin","year":"2015","journal-title":"Hum Mol Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1016\/j.jid.2015.11.031","article-title":"Intronic ITGA3 mutation impacts splicing regulation and causes interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa","volume":"136","author":"He","year":"2016","journal-title":"J Invest Dermatol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.2215\/CJN.09010813","article-title":"Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome","volume":"9","author":"Lovric","year":"2014","journal-title":"Clin J Am Soc Nephrol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"e90879","DOI":"10.1371\/journal.pone.0090879","article-title":"A human integrin-alpha3 mutation confers major renal developmental defects","volume":"9","author":"Shukrun","year":"2014","journal-title":"PLoS One"},{"key":"B13","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1186\/s13023-016-0514-z","article-title":"Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations","volume":"11","author":"Colombo","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"B14","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1016\/j.bbrc.2013.11.003","article-title":"Disease-associated single amino acid mutation in the calf-1 domain of integrin alpha3 leads to defects in its processing and cell surface expression","volume":"441","author":"Yamada","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"B15","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/bs.ctm.2015.07.003","article-title":"Cell receptor-basement membrane interactions in health and disease: a kidney-centric view","volume":"76","author":"Borza","year":"2015","journal-title":"Curr Top Membr"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1681\/ASN.2013010012","article-title":"Integrins in kidney disease","volume":"24","author":"Pozzi","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B17","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1089\/wound.2013.0516","article-title":"Integrin regulation of epidermal functions in wounds","volume":"3","author":"Longmate","year":"2014","journal-title":"Adv Wound Care"},{"key":"B18","doi-asserted-by":"publisher","first-page":"a004994","DOI":"10.1101\/cshperspect.a004994","article-title":"Integrin structure, activation, and interactions","volume":"3","author":"Campbell","year":"2011","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"B19","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.matbio.2005.12.001","article-title":"Ligand-binding specificities of laminin-binding integrins: a comprehensive survey of laminin-integrin interactions using recombinant alpha3beta1, alpha6beta1, alpha7beta1 and alpha6beta4 integrins","volume":"25","author":"Nishiuchi","year":"2006","journal-title":"Matrix Biol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"9265074","DOI":"10.1155\/2016\/9265074","article-title":"Upregulation of \u03b13\u03b21-integrin in podocytes in early-stage diabetic nephropathy","volume":"2016","author":"Sawada","year":"2016","journal-title":"J Diabetes Res"},{"key":"B21","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1016\/S0024-3205(00)00815-8","article-title":"Altering expression of alpha3beta1 integrin on podocytes of human and rats with diabetes","volume":"67","author":"Chen","year":"2000","journal-title":"Life Sci"},{"key":"B22","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.lab.2005.08.011","article-title":"Reduced podocyte expression of alpha3beta1 integrins and podocyte depletion in patients with primary focal segmental glomerulosclerosis and chronic PAN-treated rats","volume":"147","author":"Chen","year":"2006","journal-title":"J Lab Clin Med"},{"key":"B23","doi-asserted-by":"publisher","first-page":"34827","DOI":"10.1074\/jbc.M401973200","article-title":"Podocyte migration during nephrotic syndrome requires a coordinated interplay between cathepsin L and alpha3 integrin","volume":"279","author":"Reiser","year":"2004","journal-title":"J Biol Chem"},{"key":"B24","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1159\/000185086","article-title":"Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease","volume":"49","author":"Kagan","year":"1988","journal-title":"Nephron"},{"key":"B25","doi-asserted-by":"publisher","first-page":"2217","DOI":"10.1182\/blood-2004-04-1512","article-title":"CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin","volume":"104","author":"Karamatic Crew","year":"2004","journal-title":"Blood"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2017.11.003","article-title":"Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy","author":"Vahidnezhad","year":"2017","journal-title":"Matrix Biol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/nrc2543","article-title":"Tetraspanins: push and pull in suppressing and promoting metastasis","volume":"9","author":"Zoller","year":"2009","journal-title":"Nat Rev Cancer"},{"key":"B28","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1242\/jcs.115.6.1161","article-title":"Association of the tetraspanin CD151 with the laminin-binding integrins alpha3beta1, alpha6beta1, alpha6beta4 and alpha7beta1 in cells in culture and in vivo","volume":"115","author":"Sterk","year":"2002","journal-title":"J Cell Sci"},{"key":"B29","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1042\/bj3400103","article-title":"Selective tetraspan-integrin complexes (CD81\/alpha4beta1, CD151\/alpha3beta1, CD151\/alpha6beta1) under conditions disrupting tetraspan interactions","volume":"340","author":"Serru","year":"1999","journal-title":"Biochem J"},{"key":"B30","doi-asserted-by":"publisher","first-page":"41165","DOI":"10.1074\/jbc.M104041200","article-title":"Analysis of the CD151-alpha3beta1 integrin and CD151-tetraspanin interactions by mutagenesis","volume":"276","author":"Berditchevski","year":"2001","journal-title":"J Biol Chem"},{"key":"B31","doi-asserted-by":"publisher","first-page":"35445","DOI":"10.1074\/jbc.M806394200","article-title":"Tetraspanin CD151 regulates glycosylation of (alpha)3(beta)1 integrin","volume":"283","author":"Baldwin","year":"2008","journal-title":"J Biol Chem"},{"key":"B32","doi-asserted-by":"publisher","first-page":"927","DOI":"10.2353\/ajpath.2008.071149","article-title":"Deletion of CD151 results in a strain-dependent glomerular disease due to severe alterations of the glomerular basement membrane","volume":"173","author":"Baleato","year":"2008","journal-title":"Am J Pathol"},{"key":"B33","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1016\/j.jpurol.2006.01.007","article-title":"Single-centre experience of genitourinary complications of epidermolysis bullosa","volume":"2","author":"Burgu","year":"2006","journal-title":"J Pediatr Urol"},{"key":"B34","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1111\/bjd.12317","article-title":"Phenotypic spectrum of epidermolysis bullosa associated with alpha6beta4 integrin mutations","volume":"169","author":"Schumann","year":"2013","journal-title":"Br J Dermatol"},{"key":"B35","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1016\/j.yexcr.2012.02.033","article-title":"The role of cell-extracellular matrix interactions in glomerular injury","volume":"318","author":"Borza","year":"2012","journal-title":"Exp Cell Res"},{"key":"B36","doi-asserted-by":"publisher","first-page":"1857","DOI":"10.1091\/mbc.E14-07-1203","article-title":"Integrin \u03b13\u03b21 regulates kidney collecting duct development via TRAF6-dependent K63-linked polyubiquitination of Akt","volume":"26","author":"Yazlovitskaya","year":"2015","journal-title":"Mol Biol Cell"},{"key":"B37","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1016\/j.matbio.2016.12.003","article-title":"Integrin alpha6 maintains the structural integrity of the kidney collecting system","author":"Viquez","year":"2017","journal-title":"Matrix Biol"},{"key":"B38","doi-asserted-by":"publisher","first-page":"2150","DOI":"10.1016\/j.jid.2016.06.609","article-title":"Genotype, clinical course, and therapeutic decision making in 76 infants with severe generalized junctional epidermolysis bullosa","volume":"136","author":"Hammersen","year":"2016","journal-title":"J Invest Dermatol"},{"key":"B39","doi-asserted-by":"publisher","first-page":"e601","DOI":"10.1542\/peds.2005-0160","article-title":"Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa","volume":"116","author":"Hata","year":"2005","journal-title":"Pediatrics"},{"key":"B40","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s40142-016-0100-7","article-title":"Expansion of the RASopathies","volume":"4","author":"Tidyman","year":"2016","journal-title":"Curr Genet Med Rep"},{"key":"B41","doi-asserted-by":"publisher","first-page":"R123","DOI":"10.1093\/hmg\/ddw191","article-title":"Pathogenetics of the RASopathies","volume":"25","author":"Tidyman","year":"2016","journal-title":"Hum Mol Genet"},{"key":"B42","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1136\/jmg.2006.045906","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","author":"Ferner","year":"2007","journal-title":"J Med Genet"},{"key":"B43","first-page":"575","article-title":"Conference statement. National Institutes of Health Consensus Development Conference","volume":"45","year":"1988","journal-title":"Arch Neurol"},{"key":"B44","doi-asserted-by":"publisher","first-page":"2550","DOI":"10.1002\/1097-0142(197706)39:6<2550::AID-CNCR2820390636>3.0.CO;2-Y","article-title":"The relationship between nephroblastoma and neurofibromatosis (Von Recklinghausen\u2019s disease)","volume":"39","author":"Stay","year":"1977","journal-title":"Cancer"},{"key":"B45","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1136\/bmj.1.6064.813","article-title":"Wilms\u2019s tumour and neurofibromatosis","volume":"1","author":"Walden","year":"1977","journal-title":"Br Med J"},{"key":"B46","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1634\/theoncologist.5-6-477","article-title":"Malignancy in neurofibromatosis type 1","volume":"5","author":"Korf","year":"2000","journal-title":"Oncologist"},{"key":"B47","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1038\/ejhg.2011.113","article-title":"Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989","volume":"19","author":"Evans","year":"2011","journal-title":"Eur J Hum Genet EJHG"},{"key":"B48","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1159\/000368078","article-title":"Treatment of neurofibromas with a carbon dioxide laser: a retrospective cross-sectional study of 106 patients","volume":"230","author":"M\u00e9ni","year":"2015","journal-title":"Dermatol Basel Switz"},{"key":"B49","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1007\/s10103-013-1469-0","article-title":"Comparative study of CO2- and Er:YAG laser ablation of multiple cutaneous neurofibromas in von Recklinghausen\u2019s disease","volume":"29","author":"Kriechbaumer","year":"2014","journal-title":"Lasers Med Sci"},{"key":"B50","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.semcdb.2016.02.007","article-title":"Neurofibromatosis type 1: fundamental insights into cell signalling and cancer","volume":"52","author":"Rad","year":"2016","journal-title":"Semin Cell Dev Biol"},{"key":"B51","article-title":"Neurofibromatosis 1","volume-title":"GeneReviews(","author":"Friedman","year":"2017"},{"key":"B52","doi-asserted-by":"publisher","first-page":"2768","DOI":"10.1093\/hmg\/ddp212","article-title":"Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1","volume":"18","author":"Sabbagh","year":"2009","journal-title":"Hum Mol Genet"},{"key":"B53","doi-asserted-by":"publisher","first-page":"1510","DOI":"10.1002\/humu.22392","article-title":"NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience","volume":"34","author":"Sabbagh","year":"2013","journal-title":"Hum Mutat"},{"key":"B54","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1177\/0883073811423439","article-title":"Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1","volume":"27","author":"Jentarra","year":"2012","journal-title":"J Child Neurol"},{"key":"B55","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1007\/s10048-009-0178-0","article-title":"The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas","volume":"10","author":"Upadhyaya","year":"2009","journal-title":"Neurogenetics"},{"key":"B56","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/1750-1172-3-13","article-title":"LEOPARD syndrome","volume":"3","author":"Sarkozy","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"B57","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1007\/BF02010926","article-title":"Abdominal ultrasound in Noonan syndrome: a study of 44 patients","volume":"23","author":"George","year":"1993","journal-title":"Pediatr Radiol"},{"key":"B58","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/1471-2350-15-44","article-title":"LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies","volume":"15","author":"Santoro","year":"2014","journal-title":"BMC Med Genet"},{"key":"B59","doi-asserted-by":"publisher","first-page":"740","DOI":"10.1002\/ajmg.a.31156","article-title":"LEOPARD syndrome: clinical diagnosis in the first year of life","volume":"140","author":"Digilio","year":"2006","journal-title":"Am J Med Genet A"},{"key":"B60","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/S0007-1226(03)00218-2","article-title":"Intense pulsed light for the treatment of lentigines in LEOPARD syndrome","volume":"56","author":"Kontoes","year":"2003","journal-title":"Br J Plast Surg"},{"key":"B61","article-title":"Noonan syndrome with multiple lentigines","volume-title":"GeneReviews(","author":"Gelb","year":"2017"},{"key":"B62","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1038\/ng2073","article-title":"Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy","volume":"39","author":"Pandit","year":"2007","journal-title":"Nat Genet"},{"key":"B63","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1038\/ejhg.2011.37","article-title":"Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation","volume":"19","author":"Jongmans","year":"2011","journal-title":"Eur J Hum Genet EJHG"},{"key":"B64","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1002\/gcc.20735","article-title":"Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations","volume":"49","author":"Denayer","year":"2010","journal-title":"Genes Chromosomes Cancer"},{"volume-title":"Smith\u2019s Recognizable Patterns of Human Malformation: Expert Consult \u2013 Online and Print, 7e","year":"2013","author":"Jones","key":"B65"},{"key":"B66","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","article-title":"Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference","volume":"49","author":"Northrup","year":"2013","journal-title":"Pediatr Neurol"},{"key":"B67","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1177\/088307380001501003","article-title":"Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients","volume":"15","author":"J\u00f3zwiak","year":"2000","journal-title":"J Child Neurol"},{"key":"B68","first-page":"1201","article-title":"Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features","volume":"149","author":"Bjornsson","year":"1996","journal-title":"Am J Pathol"},{"key":"B69","article-title":"Tuberous sclerosis complex","volume-title":"GeneReviews(","author":"Northrup","year":"2017"},{"key":"B70","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.pediatrneurol.2013.08.002","article-title":"Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference","volume":"49","author":"Krueger","year":"2013","journal-title":"Pediatr Neurol"},{"key":"B71","doi-asserted-by":"publisher","first-page":"9820181","DOI":"10.1155\/2017\/9820181","article-title":"Recent advances and challenges of mTOR inhibitors use in the treatment of patients with tuberous sclerosis complex","volume":"2017","author":"Palavra","year":"2017","journal-title":"Oxid Med Cell Longev"},{"key":"B72","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1007\/s00266-013-0252-8","article-title":"Co2\/Erbium:YAG\/Dye laser combination: an effective and successful treatment for angiofibromas in tuberous sclerosis","volume":"38","author":"Fioramonti","year":"2014","journal-title":"Aesthetic Plast Surg"},{"key":"B73","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1111\/ijd.12384","article-title":"Nd:YAG laser for \u201cfractional\u201d treatment of angiofibromas","volume":"53","author":"Ma","year":"2014","journal-title":"Int J Dermatol"},{"key":"B74","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1002\/lsm.20939","article-title":"New technique using combined pulsed dye laser and fractional resurfacing for treating facial angiofibromas in tuberous sclerosis","volume":"42","author":"Weiss","year":"2010","journal-title":"Lasers Surg Med"},{"key":"B75","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1136\/archdischild-2016-312001","article-title":"Cutaneous manifestations of tuberous sclerosis complex and the paediatrician\u2019s role","volume":"102","author":"Cardis","year":"2017","journal-title":"Arch Dis Child"},{"key":"B76","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.pediatrneurol.2016.04.003","article-title":"Topical use of mammalian target of rapamycin (mTOR) inhibitors in tuberous sclerosis complex \u2013 a comprehensive review of the literature","volume":"61","author":"J\u00f3\u017awiak","year":"2016","journal-title":"Pediatr Neurol"},{"key":"B77","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1590\/1678-4685-GMB-2015-0321","article-title":"TSC1 and TSC2 gene mutations and their implications for treatment in tuberous sclerosis complex: a review","volume":"40","author":"Rosset","year":"2017","journal-title":"Genet Mol Biol"},{"key":"B78","doi-asserted-by":"publisher","first-page":"e1005637","DOI":"10.1371\/journal.pgen.1005637","article-title":"Mosaic and intronic mutations in TSC1\/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing","volume":"11","author":"Tyburczy","year":"2015","journal-title":"PLoS Genet"},{"key":"B79","doi-asserted-by":"publisher","first-page":"15816","DOI":"10.1038\/ncomms15816","article-title":"The genomic landscape of tuberous sclerosis complex","volume":"8","author":"Martin","year":"2017","journal-title":"Nat Commun"},{"key":"B80","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1111\/epi.12680","article-title":"Severity of manifestations in tuberous sclerosis complex in relation to genotype","volume":"55","author":"Kothare","year":"2014","journal-title":"Epilepsia"},{"key":"B81","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1016\/j.braindev.2013.11.003","article-title":"Arachnoid cysts in tuberous sclerosis complex","volume":"36","author":"Boronat","year":"2014","journal-title":"Brain Dev"},{"key":"B82","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/path.4827","article-title":"New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex","volume":"241","author":"Lam","year":"2017","journal-title":"J Pathol"},{"key":"B83","doi-asserted-by":"publisher","first-page":"2023","DOI":"10.1093\/hmg\/ddt597","article-title":"Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex","volume":"23","author":"Tyburczy","year":"2014","journal-title":"Hum Mol Genet"},{"key":"B84","first-page":"1639","article-title":"Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors","volume":"151","author":"Henske","year":"1997","journal-title":"Am J Pathol"},{"key":"B85","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/ajmg.a.33139","article-title":"Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service","author":"Evans","year":"2010","journal-title":"Am J Med Genet A"},{"key":"B86","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1111\/ddg.12934","article-title":"Acral basal cell carcinomas in an infant with Gorlin syndrome: expanding the phenotype?","volume":"15","author":"Mendes-Bastos","year":"2017","journal-title":"J Dtsch Dermatol Ges J Ger Soc Dermatol JDDG"},{"key":"B87","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1111\/j.1468-3083.2004.01169.x","article-title":"Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy","volume":"19","author":"Bacanli","year":"2005","journal-title":"J Eur Acad Dermatol Venereol JEADV"},{"key":"B88","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/ncponc0608","article-title":"Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome","volume":"3","author":"Cajaiba","year":"2006","journal-title":"Nat Clin Pract Oncol"},{"key":"B89","doi-asserted-by":"publisher","first-page":"2894","DOI":"10.1002\/ajmg.a.36259","article-title":"Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci","author":"Garavelli","year":"2013","journal-title":"Am J Med Genet A"},{"key":"B90","doi-asserted-by":"publisher","first-page":"2091","DOI":"10.1002\/ajmg.a.34128","article-title":"Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS)","author":"Bree","year":"2011","journal-title":"Am J Med Genet A"},{"key":"B91","doi-asserted-by":"publisher","first-page":"2543","DOI":"10.1002\/mc.22690","article-title":"Basal cell carcinoma pathogenesis and therapy involving hedgehog signaling and beyond","volume":"56","author":"Bakshi","year":"2017","journal-title":"Mol Carcinog"},{"key":"B92","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2016.4347","article-title":"Risk factors for basal cell carcinoma among patients with basal cell nevus syndrome: development of a basal cell nevus syndrome patient registry","author":"Solis","year":"2016","journal-title":"JAMA Dermatol"},{"key":"B93","article-title":"Nevoid basal cell carcinoma syndrome","volume-title":"GeneReviews(","author":"Evans","year":"2017"},{"key":"B94","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1136\/jmg.2007.055343","article-title":"A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family","volume":"45","author":"Fan","year":"2008","journal-title":"J Med Genet"},{"key":"B95","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/bjd.14425","article-title":"Segmental basal cell naevus syndrome caused by an activating mutation in smoothened","volume":"175","author":"Khamaysi","year":"2016","journal-title":"Br J Dermatol"},{"key":"B96","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1111\/bjd.15082","article-title":"Postzygotic mosaicism in basal cell naevus syndrome","volume":"177","author":"Reinders","year":"2017","journal-title":"Br J Dermatol"},{"key":"B97","doi-asserted-by":"publisher","first-page":"2584","DOI":"10.1002\/ajmg.a.31369","article-title":"PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI","volume":"140","author":"Ribeiro","year":"2006","journal-title":"Am J Med Genet A"},{"key":"B98","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1083\/jcb.201207140","article-title":"Hedgehog pathway inhibition and the race against tumor evolution","volume":"199","author":"Atwood","year":"2012","journal-title":"J Cell Biol"},{"key":"B99","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1038\/nrc2503","article-title":"Basal cell carcinomas: attack of the hedgehog","volume":"8","author":"Epstein","year":"2008","journal-title":"Nat Rev Cancer"},{"key":"B100","article-title":"Birt-Hogg-Dub\u00e9 syndrome","volume-title":"GeneReviews","author":"Toro","year":"2017"},{"key":"B101","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/nrurol.2015.206","article-title":"Molecular genetics and clinical features of Birt-Hogg-Dub\u00e9 syndrome","volume":"12","author":"Schmidt","year":"2015","journal-title":"Nat Rev Urol"},{"key":"B102","first-page":"393","article-title":"Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dub\u00e9 syndrome","volume":"11","author":"Zbar","year":"2002","journal-title":"Cancer Epidemiol Biomark Prev"},{"key":"B103","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1086\/430842","article-title":"Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dub\u00e9 syndrome","volume":"76","author":"Schmidt","year":"2005","journal-title":"Am J Hum Genet"},{"key":"B104","doi-asserted-by":"publisher","first-page":"2640","DOI":"10.1172\/JCI71749","article-title":"The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation","volume":"124","author":"Yan","year":"2014","journal-title":"J Clin Invest"},{"key":"B105","doi-asserted-by":"publisher","first-page":"15552","DOI":"10.1073\/pnas.0603781103","article-title":"Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling","volume":"103","author":"Baba","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B106","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.gene.2008.02.022","article-title":"Identification and characterization of a novel folliculin-interacting protein FNIP2","volume":"415","author":"Hasumi","year":"2008","journal-title":"Gene"},{"key":"B107","doi-asserted-by":"publisher","first-page":"5339","DOI":"10.1038\/onc.2008.261","article-title":"Interaction of folliculin (Birt-Hogg-Dub\u00e9 gene product) with a novel Fnip1-like (FnipL\/Fnip2) protein","volume":"27","author":"Takagi","year":"2008","journal-title":"Oncogene"},{"key":"B108","article-title":"Hereditary leiomyomatosis and renal cell cancer","volume-title":"GeneReviews","author":"Pithukpakorn","year":"2017"},{"key":"B109","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"Tomlinson","year":"2002","journal-title":"Nat Genet"},{"key":"B110","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1006\/mgme.1998.2684","article-title":"Molecular analysis and prenatal diagnosis of human fumarase deficiency","volume":"63","author":"Coughlin","year":"1998","journal-title":"Mol Genet Metab"},{"key":"B111","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1007\/BF00291899","article-title":"Cutaneous manifestation of lethal genes","volume":"72","author":"Happle","year":"1986","journal-title":"Hum Genet"},{"key":"B112","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/S0190-9622(87)80249-9","article-title":"Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin","volume":"16","author":"Happle","year":"1987","journal-title":"J Am Acad Dermatol"},{"key":"B113","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jaad.2010.01.017","article-title":"The group of epidermal nevus syndromes Part I. Well defined phenotypes","volume":"63","author":"Happle","year":"2010","journal-title":"J Am Acad Dermatol"},{"key":"B114","doi-asserted-by":"publisher","first-page":"320","DOI":"10.5114\/pdia.2013.38363","article-title":"Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome","volume":"30","author":"Kiedrowicz","year":"2013","journal-title":"Postepy Dermatol Alergol"},{"key":"B115","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1038\/ng.2316","article-title":"Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome","volume":"44","author":"Groesser","year":"2012","journal-title":"Nat Genet"},{"key":"B116","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1038\/jid.2012.377","article-title":"Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome","volume":"133","author":"Sun","year":"2013","journal-title":"J Invest Dermatol"},{"key":"B117","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/S0190-9622(96)90674-X","article-title":"Neurocutaneous melanosis: clinical features of large congenital melanocytic nevi in patients with manifest central nervous system melanosis","volume":"35","author":"DeDavid","year":"1996","journal-title":"J Am Acad Dermatol"},{"key":"B118","doi-asserted-by":"publisher","first-page":"2229","DOI":"10.1038\/jid.2013.70","article-title":"Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS","volume":"133","author":"Kinsler","year":"2013","journal-title":"J Invest Dermatol"},{"key":"B119","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1365-2133.2006.07218.x","article-title":"Melanoma risk in congenital melanocytic naevi: a systematic review","volume":"155","author":"Krengel","year":"2006","journal-title":"Br J Dermatol"},{"key":"B120","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1093\/neuonc\/nov184","article-title":"Nevospheres from neurocutaneous melanocytosis cells show reduced viability when treated with specific inhibitors of NRAS signaling pathway","volume":"18","author":"Basu","year":"2016","journal-title":"Neuro Oncol"},{"key":"B121","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1007\/BF00442399","article-title":"The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects","volume":"134","author":"Happle","year":"1980","journal-title":"Eur J Pediatr"},{"key":"B122","first-page":"105","article-title":"[CHILD syndrome in a mother and daughter]","volume":"41","author":"Happle","year":"1990","journal-title":"Hautarzt Z Dermatol Venerol Verwandte Geb"},{"key":"B123","first-page":"232","article-title":"Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome","volume":"46","author":"Schmidt-Sidor","year":"2008","journal-title":"Folia Neuropathol"},{"key":"B124","article-title":"NSDHL-related disorders","volume-title":"GeneReviews(","author":"du Souich","year":"2017"},{"key":"B125","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/1750-1172-9-33","article-title":"Targeting epidermal lipids for treatment of Mendelian disorders of cornification","volume":"9","author":"Kiritsi","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"B126","doi-asserted-by":"publisher","first-page":"2242","DOI":"10.1038\/jid.2011.189","article-title":"Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism","volume":"131","author":"Paller","year":"2011","journal-title":"J Invest Dermatol"},{"key":"B127","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5","article-title":"Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome","volume":"90","author":"K\u00f6nig","year":"2000","journal-title":"Am J Med Genet"},{"key":"B128","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1016\/j.bbalip.2013.09.006","article-title":"The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome","volume":"1841","author":"Seeger","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"B129","doi-asserted-by":"publisher","first-page":"2469","DOI":"10.1002\/ajmg.a.33071","article-title":"Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus","author":"du Souich","year":"2009","journal-title":"Am J Med Genet A"},{"key":"B130","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/j.ajhg.2010.11.004","article-title":"Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome","volume":"87","author":"McLarren","year":"2010","journal-title":"Am J Hum Genet"},{"key":"B131","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","article-title":"Focal dermal hypoplasia","volume":"86","author":"Goltz","year":"1962","journal-title":"Arch Dermatol"},{"key":"B132","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1002\/ajmg.c.31472","article-title":"Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)","author":"Bree","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B133","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1038\/ng2052","article-title":"Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia","volume":"39","author":"Grzeschik","year":"2007","journal-title":"Nat Genet"},{"key":"B134","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1172\/JCI95300","article-title":"Genetic basis of human congenital anomalies of the kidney and urinary tract","volume":"128","author":"Sanna-Cherchi","year":"2018","journal-title":"J Clin Invest"},{"key":"B135","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1111\/bjd.13649","article-title":"Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin","volume":"173","author":"Sheu","year":"2015","journal-title":"Br J Dermatol"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fped.2018.00043\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,15]],"date-time":"2022-08-15T03:36:52Z","timestamp":1660534612000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fped.2018.00043\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,2]]},"references-count":135,"alternative-id":["10.3389\/fped.2018.00043"],"URL":"https:\/\/doi.org\/10.3389\/fped.2018.00043","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2018,3,2]]},"article-number":"43"}}