{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T17:43:22Z","timestamp":1787939002955,"version":"build-2784847793"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1007\/s00438-024-02136-3","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T15:18:01Z","timestamp":1713280681000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome"],"prefix":"10.1007","volume":"299","author":[{"given":"Clarisse","family":"Billon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgina Barbara","family":"Piccoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Madeleine","family":"de Sainte Agathe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radka","family":"Stoeva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Derive","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Berrebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Bruneval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6444-2911","authenticated-orcid":false,"given":"Marguerite","family":"Hureaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,16]]},"reference":[{"issue":"2","key":"2136_CR1","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ajmg.1320410224","volume":"41","author":"G Anner\u00e9n","year":"1991","unstructured":"Anner\u00e9n G, Meurling S, Olsen L (1991) Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am J Med Genet 41(2):251\u2013254. https:\/\/doi.org\/10.1002\/ajmg.1320410224","journal-title":"Am J Med Genet"},{"issue":"6557","key":"2136_CR2","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1126\/science.abj8754","volume":"373","author":"M Baek","year":"2021","unstructured":"Baek M, DiMaio F, Anishchenko I, Dauparas J, Ovchinnikov S, Lee GR, Wang J et al (2021) Accurate prediction of protein structures and interactions using a three-track neural network. Science 373(6557):871\u2013876. https:\/\/doi.org\/10.1126\/science.abj8754","journal-title":"Science"},{"issue":"3","key":"2136_CR3","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1111\/cge.13801","volume":"98","author":"C Billon","year":"2020","unstructured":"Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S et al (2020) Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate Gene. Clin Genet 98(3):261\u2013273. https:\/\/doi.org\/10.1111\/cge.13801","journal-title":"Clin Genet"},{"issue":"12","key":"2136_CR4","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1136\/jmg.2004.030171","volume":"42","author":"N Chassaing","year":"2005","unstructured":"Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (2005) Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 42(12):881\u2013892. https:\/\/doi.org\/10.1136\/jmg.2004.030171","journal-title":"J Med Genet"},{"issue":"5","key":"2136_CR5","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1111\/cge.13617","volume":"96","author":"W Dong","year":"2019","unstructured":"Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A (2019) Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. Clin Genet 96(5):473\u2013477. https:\/\/doi.org\/10.1111\/cge.13617. (Epub 2019 Aug 13 PMID: 31389005)","journal-title":"Clin Genet"},{"issue":"4","key":"2136_CR6","doi-asserted-by":"publisher","first-page":"77","DOI":"10.4161\/bioa.26133","volume":"3","author":"NG Dulyaninova","year":"2013","unstructured":"Dulyaninova NG, Bresnick AR (2013) The heavy chain has its day. BioArchitecture 3(4):77\u201385. https:\/\/doi.org\/10.4161\/bioa.26133","journal-title":"BioArchitecture"},{"issue":"7","key":"2136_CR7","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1007\/s00018-012-1131-1","volume":"70","author":"J England","year":"2013","unstructured":"England J, Loughna S (2013) Heavy and light roles: myosin in the morphogenesis of the heart. Cell Mol Life Sci: CMLS 70(7):1221\u20131239. https:\/\/doi.org\/10.1007\/s00018-012-1131-1","journal-title":"Cell Mol Life Sci: CMLS"},{"issue":"9","key":"2136_CR8","doi-asserted-by":"publisher","first-page":"1266","DOI":"10.1038\/ejhg.2014.256","volume":"23","author":"J Gauthier","year":"2015","unstructured":"Gauthier J, Bencheikh BOA, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I et al (2015) A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Human Genet EJHG 23(9):1266\u20131268. https:\/\/doi.org\/10.1038\/ejhg.2014.256","journal-title":"Eur J Human Genet EJHG"},{"issue":"10","key":"2136_CR9","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1007\/s00383-011-2954-9","volume":"27","author":"J-H Gosemann","year":"2011","unstructured":"Gosemann J-H, Puri P (2011) Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int 27(10):1041\u20131046. https:\/\/doi.org\/10.1007\/s00383-011-2954-9","journal-title":"Pediatr Surg Int"},{"issue":"1","key":"2136_CR10","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.ajhg.2017.05.011","volume":"101","author":"D Halim","year":"2017","unstructured":"Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, CobanAkdemirs ZH et al (2017) Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome. Am J Hum Genet 101(1):123\u2013129. https:\/\/doi.org\/10.1016\/j.ajhg.2017.05.011","journal-title":"Am J Hum Genet"},{"issue":"3","key":"2136_CR11","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1093\/hmg\/ddv497","volume":"25","author":"D Halim","year":"2016","unstructured":"Halim D, Hofstra RMW, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RWW et al (2016) ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome. Hum Mol Genet 25(3):571\u2013583. https:\/\/doi.org\/10.1093\/hmg\/ddv497","journal-title":"Hum Mol Genet"},{"issue":"7920","key":"2136_CR12","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1038\/s41586-022-04965-x","volume":"607","author":"BV Halldorsson","year":"2022","unstructured":"Halldorsson BV, Eggertsson HP, Moore KHS, Hauswedell H, Eiriksson O, Ulfarsson MO, Palsson G et al (2022) The sequences of 150,119 Genomes in the UK Biobank. Nature 607(7920):732\u2013740. https:\/\/doi.org\/10.1038\/s41586-022-04965-x","journal-title":"Nature"},{"issue":"6","key":"2136_CR13","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1055\/s-0034-1365142","volume":"46","author":"OL Holla","year":"2014","unstructured":"Holla OL, Bock G, Busk OL, Isfoss BL (2014) Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. Endoscopy 46(6):533\u2013537. https:\/\/doi.org\/10.1055\/s-0034-1365142","journal-title":"Endoscopy"},{"issue":"1","key":"2136_CR14","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1177\/10935266221128133","volume":"26","author":"RP Kapur","year":"2023","unstructured":"Kapur RP (2023) Histopathological, ultrastructural, and immunohistochemical findings in MYH11-variant visceral myopathy. Pediatr Dev Pathol off J Soc Pediatr Pathol Paediatr Pathol Soc 26(1):39\u201351. https:\/\/doi.org\/10.1177\/10935266221128133","journal-title":"Pediatr Dev Pathol off J Soc Pediatr Pathol Paediatr Pathol Soc"},{"issue":"6","key":"2136_CR15","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1177\/10935266221107449","volume":"25","author":"RP Kapur","year":"2022","unstructured":"Kapur RP, Goldstein AM, Loeff DS, Myers CT, Paschal CR (2022) Intestinal pathology in patients with pathogenic ACTG2-variant visceral myopathy: 16 patients from 12 families and review of the literature. Pediatr Dev Pathol Offi J Soc Pediatr Pathol Paediatr Pathol Soci 25(6):581\u2013597. https:\/\/doi.org\/10.1177\/10935266221107449","journal-title":"Pediatr Dev Pathol Offi J Soc Pediatr Pathol Paediatr Pathol Soci"},{"issue":"7809","key":"2136_CR16","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alf\u00f6ldi J, Wang Q, Collins RL et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"issue":"1","key":"2136_CR17","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1111\/cge.13557","volume":"96","author":"K Kloth","year":"2019","unstructured":"Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G (2019) 16p13 11 Microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. Clin Genet 96(1):85\u201390. https:\/\/doi.org\/10.1111\/cge.13557","journal-title":"Clin Genet"},{"issue":"2","key":"2136_CR18","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1080\/15513815.2018.1445149","volume":"37","author":"E\u00dc Kor\u011fal\u0131","year":"2018","unstructured":"Kor\u011fal\u0131 E\u00dc, Yavuz A, \u015eim\u015fek CE\u00c7, G\u00fcney C, Kurtulgan HK, Ba\u015fer B, Atalar MH, \u00d6zer H, E\u011filmez HR (2018) Megacystis microcolon intestinal hypoperistalsis syndrome in which a different de novo Actg2 gene mutation was detected: a case report. Fetal Pediatr Pathol 37(2):109\u2013116. https:\/\/doi.org\/10.1080\/15513815.2018.1445149","journal-title":"Fetal Pediatr Pathol"},{"issue":"6","key":"2136_CR19","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1097\/MPG.0000000000001204","volume":"63","author":"W Lu","year":"2016","unstructured":"Lu W, Xiao Y, Huang J, Tao Y, Yan W, Lina Lu, Cao Yi, Cai W (2016) Mutation in actin \u03b3-2 responsible for megacystis microcolon intestinal hypoperistalsis syndrome in 4 Chinese patients. J Pediatr Gastroenterol Nutr 63(6):624\u2013626. https:\/\/doi.org\/10.1097\/MPG.0000000000001204","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"8","key":"2136_CR20","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1038\/ejhg.2015.275","volume":"24","author":"I Matera","year":"2016","unstructured":"Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M et al (2016) Variants of the ACTG2 Gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Euro J Human Genet: EJHG 24(8):1211\u20131215. https:\/\/doi.org\/10.1038\/ejhg.2015.275","journal-title":"Euro J Human Genet: EJHG"},{"issue":"9","key":"2136_CR21","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1007\/s00383-013-3357-x","volume":"29","author":"ML Danielle","year":"2013","unstructured":"Danielle ML, Puri P (2013) Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int 29(9):947\u2013951. https:\/\/doi.org\/10.1007\/s00383-013-3357-x","journal-title":"Pediatr Surg Int"},{"issue":"1","key":"2136_CR22","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1161\/ATVBAHA.116.303229","volume":"37","author":"DM Milewicz","year":"2017","unstructured":"Milewicz DM, Trybus KM, Dong-Chuan Guo H, Sweeney L, Regalado E, Kamm K, Stull JT (2017) Altered smooth muscle cell force generation as a driver of thoracic aortic aneurysms and dissections. Arterioscler Thromb Vasc Biol 37(1):26\u201334. https:\/\/doi.org\/10.1161\/ATVBAHA.116.303229","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"5","key":"2136_CR23","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1038\/s41431-017-0055-5","volume":"26","author":"CA Moreno","year":"2018","unstructured":"Moreno CA, Sobreira N, Pugh E, Zhang P, Steel G, Torres FR, Cavalcanti DP (2018) Homozygous deletion in MYL9 expands the molecular basis of megacystis\u2013microcolon\u2013intestinal hypoperistalsis syndrome. Eur J Hum Genet 26(5):669\u2013675. https:\/\/doi.org\/10.1038\/s41431-017-0055-5","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"2136_CR24","doi-asserted-by":"publisher","first-page":"e81","DOI":"10.1097\/MPG.0000000000003008","volume":"72","author":"KM Prathapan","year":"2021","unstructured":"Prathapan KM, King DE, Raghu VK, Ackerman K, Presel T, Yaworski JA, Ganoza A et al (2021) Megacystis microcolon intestinal hypoperistalsis syndrome: a case series with long-term follow-up and prolonged survival. J Pediatr Gastroenterol Nutr 72(4):e81-85. https:\/\/doi.org\/10.1097\/MPG.0000000000003008","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"5","key":"2136_CR25","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med off J Am Coll Med Genet 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med off J Am Coll Med Genet"},{"issue":"W1","key":"2136_CR26","doi-asserted-by":"publisher","first-page":"W431","DOI":"10.1093\/nar\/gkab314","volume":"49","author":"D Sehnal","year":"2021","unstructured":"Sehnal D, Bittrich S, Deshpande M, Svobodov\u00e1 R, Berka K, Bazgier V, Velankar S, Burley SK, Ko\u010da J, Rose AS (2021) Mol* Viewer: modern web app for 3D visualization and analysis of large biomolecular structures. Nucleic Acids Res 49(W1):W431\u2013W437. https:\/\/doi.org\/10.1093\/nar\/gkab314","journal-title":"Nucleic Acids Res"},{"issue":"11","key":"2136_CR27","doi-asserted-by":"publisher","first-page":"2338","DOI":"10.1007\/s10620-009-0882-5","volume":"54","author":"A Talisetti","year":"2009","unstructured":"Talisetti A, Longacre T, Pai RK, Kerner J (2009) Diversion colitis in a 19-year-old female with megacystis-microcolon-intestinal hypoperistalsis syndrome. Dig Dis Sci 54(11):2338\u20132340. https:\/\/doi.org\/10.1007\/s10620-009-0882-5","journal-title":"Dig Dis Sci"},{"issue":"6","key":"2136_CR28","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1007\/s00439-013-1406-0","volume":"133","author":"W Thorson","year":"2014","unstructured":"Thorson W, Diaz-Horta O, Foster J, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M (2014) De Novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet 133(6):737\u2013742. https:\/\/doi.org\/10.1007\/s00439-013-1406-0","journal-title":"Hum Genet"},{"issue":"4","key":"2136_CR29","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1097\/MEG.0b013e3282efa514","volume":"20","author":"J Trebicka","year":"2008","unstructured":"Trebicka J, Biecker E, Gruenhage F, Stolte M, Meier-Ruge WA, Sauerbruch T, Lammert F (2008) Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report. Eur J Gastroenterol Hepatol 20(4):353\u2013355. https:\/\/doi.org\/10.1097\/MEG.0b013e3282efa514","journal-title":"Eur J Gastroenterol Hepatol"},{"issue":"5","key":"2136_CR30","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1038\/ejhg.2013.230","volume":"22","author":"M Tropeano","year":"2014","unstructured":"Tropeano M, Andrieux J, Collier DA (2014) Clinical utility gene card microdeletion syndrome. Euro J Human Genet 22(5):713\u2013713. https:\/\/doi.org\/10.1038\/ejhg.2013.230","journal-title":"Euro J Human Genet"},{"issue":"4","key":"2136_CR31","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1159\/000381638","volume":"38","author":"L Tuzovic","year":"2015","unstructured":"Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X et al (2015) New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding \u03b3-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (berdon syndrome). Fetal Diagn Ther 38(4):296\u2013306. https:\/\/doi.org\/10.1159\/000381638","journal-title":"Fetal Diagn Ther"},{"issue":"11","key":"2136_CR32","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1038\/s10038-019-0651-z","volume":"64","author":"Q Wang","year":"2019","unstructured":"Wang Q, Zhang J, Wang H, Feng Q, Luo F, Xie J (2019) Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. J Hum Genet 64(11):1067\u20131073. https:\/\/doi.org\/10.1038\/s10038-019-0651-z","journal-title":"J Hum Genet"},{"issue":"3","key":"2136_CR33","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004258","volume":"10","author":"MF Wangler","year":"2014","unstructured":"Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ et al (2014) Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet 10(3):e1004258. https:\/\/doi.org\/10.1371\/journal.pgen.1004258","journal-title":"PLoS Genet"},{"key":"2136_CR34","doi-asserted-by":"publisher","first-page":"9146507","DOI":"10.1155\/2017\/9146507","volume":"2017","author":"JR Whittington","year":"2017","unstructured":"Whittington JR, Poole AT, Dutta EH, Munn MB (2017) A novel mutation in ACTG2 gene in mother with chronic intestinal pseudoobstruction and fetus with megacystis microcolon intestinal hypoperistalsis syndrome. Case Rep Genet 2017:9146507. https:\/\/doi.org\/10.1155\/2017\/9146507","journal-title":"Case Rep Genet"},{"issue":"4","key":"2136_CR35","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1002\/ajmg.a.38647","volume":"176","author":"AT Yetman","year":"2018","unstructured":"Yetman AT, Starr LJ (2018) Newly described recessive MYH11 disorder with clinical overlap of multisystemic smooth muscle dysfunction and megacystis microcolon hypoperistalsis syndromes. Am J Med Genet A 176(4):1011\u20131014. https:\/\/doi.org\/10.1002\/ajmg.a.38647","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2136_CR36","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1038\/ng1721","volume":"38","author":"L Zhu","year":"2006","unstructured":"Zhu L, Vranckx R, Kien PKV, Lalande A, Boisset N, Mathieu F, Wegman M et al (2006) mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm\/aortic dissection and patent ductus arteriosus. Nat Genet 38(3):343\u2013349. https:\/\/doi.org\/10.1038\/ng1721","journal-title":"Nat Genet"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-024-02136-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-024-02136-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-024-02136-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T15:20:05Z","timestamp":1713280805000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-024-02136-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,16]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["2136"],"URL":"https:\/\/doi.org\/10.1007\/s00438-024-02136-3","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,16]]},"assertion":[{"value":"5 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"CONFLICT OF INTEREST"}},{"value":"Written consent for genetics analysis, publication of pathological images and clinical information was obtained from both index cases and parents, in accordance with French Bioethics Law of 2004. The authors confirm that the study conforms to recognized standards of European Medicines Agency Guidelines for Good Clinical Practice and has been performed in accordance with local ethical approvals.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"44"}}