{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T04:30:45Z","timestamp":1786681845906,"version":"build-2736575974"},"reference-count":46,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Bardet\u2010Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various manifestations of endocrine and other clinical comorbidities among pediatric and adult patients with BBS. This retrospective chart review included pediatric and adult patients with BBS evaluated at an academic tertiary care center in the United States between 2000 and 2024. The study included 31 patients (7 children and 24 adults) with seven identified pathogenic variants associated with BBS. The most common genetic etiology was biallelic variants in\n                    <jats:italic>BBS1<\/jats:italic>\n                    (36%). Obesity was diagnosed in 86% of children and 100% of adults. No children had diabetes or prediabetes, whereas 46% of adults were affected. Dyslipidemia was identified in 29% of children and 46% of adults. No thyroid abnormalities were identified in children, whereas 25% of adults were affected. Retinal dystrophy was present in 71% of children and 96% of adults. Polydactyly was observed in 100% of children and 75% of adults. Chronic kidney disease was present in 29% of children and 63% of adults. This study highlights the clinical heterogeneity and substantial multisystem burden of BBS across pediatric and adult patients. The greater prevalence of diabetes\/prediabetes, dyslipidemia, thyroid abnormalities, chronic kidney disease, and visual impairment among adults suggests that these complications may emerge or progress over time. Early recognition, proactive longitudinal surveillance, and comprehensive multidisciplinary care are essential to optimize management across the lifespan.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70276","type":"journal-article","created":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T04:22:06Z","timestamp":1786681326000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, Genetic, and Endocrine Features of Bardet\u2010Biedl Syndrome in a Pediatric and Adult Cohort"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1806-4873","authenticated-orcid":false,"given":"Doha","family":"Hassan","sequence":"first","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-7451-1503","authenticated-orcid":false,"given":"Mostafa","family":"Salama","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2464-3000","authenticated-orcid":false,"given":"Kalpana","family":"Muthusamy","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes, Metabolism, and Nutrition Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea M.","family":"Haqq","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology University of Alberta  Edmonton Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8806-1438","authenticated-orcid":false,"given":"Brittni A.","family":"Scruggs","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Ophthalmology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8899-3582","authenticated-orcid":false,"given":"Brendan C.","family":"Lanpher","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3353-5015","authenticated-orcid":false,"given":"Quennie K. G.","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5541-0085","authenticated-orcid":false,"given":"Carl H.","family":"Cramer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6511-7822","authenticated-orcid":false,"given":"Bridget","family":"Biggs","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9571-2726","authenticated-orcid":false,"given":"Amy E.","family":"Rabatin","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9145-3061","authenticated-orcid":false,"given":"Afton","family":"Koball","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kahlen","family":"Darr","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul M.","family":"Bratcher","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen","family":"Lamothe","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer B.","family":"Tenley","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3154-4249","authenticated-orcid":false,"given":"Lisa A.","family":"Schimmenti","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic  Rochester USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8004-4924","authenticated-orcid":false,"given":"Seema","family":"Kumar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,13]]},"reference":[{"issue":"11","key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"5004","DOI":"10.1167\/iovs.06-0517","article-title":"Retinal Disease Expression in Bardet\u2010Biedl Syndrome\u20101 (BBS1) is a Spectrum From Maculopathy to Retina\u2010Wide Degeneration","volume":"47","author":"Azari A. A.","year":"2006","journal-title":"Investigative Ophthalmology & Visual Science"},{"issue":"6","key":"e_1_2_11_3_1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New Criteria for Improved Diagnosis of Bardet\u2010Biedl Syndrome: Results of a Population Survey","volume":"36","author":"Beales P. L.","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.2147\/JMDH.S274739","article-title":"Monitoring and Management of Bardet\u2010Biedl Syndrome: What the Multi\u2010Disciplinary Team Can Do","volume":"15","author":"Caba L.","year":"2022","journal-title":"Journal of Multidisciplinary Healthcare"},{"issue":"1","key":"e_1_2_11_5_1","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1186\/s13023-024-03400-w","article-title":"Ultrasound Evaluation of Kidney and Liver Involvement in Bardet\u2010Biedl Syndrome","volume":"19","author":"Cetiner M.","year":"2024","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"12","key":"e_1_2_11_6_1","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1007\/s00431-025-06592-w","article-title":"Comprehensive Clinical and Genetic Characterization of Bardet\u2010Biedl Syndrome: Insights From the Largest Turkish Cohort","volume":"184","author":"Demir S.","year":"2025","journal-title":"European Journal of Pediatrics"},{"issue":"11","key":"e_1_2_11_7_1","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1038\/s41431-024-01634-7","article-title":"Bardet\u2010Biedl Syndrome Improved Diagnosis Criteria and Management: Inter European Reference Networks Consensus Statement and Recommendations","volume":"32","author":"Dollfus H.","year":"2024","journal-title":"European Journal of Human Genetics"},{"issue":"20","key":"e_1_2_11_8_1","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1001\/jama.2023.19897","article-title":"Obesity Management in Adults: A Review","volume":"330","author":"Elmaleh\u2010Sachs A.","year":"2023","journal-title":"JAMA"},{"issue":"9","key":"e_1_2_11_9_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes12091353","article-title":"Bardet\u2010Biedl Syndrome\u2010Multiple Kaleidoscope Images: Insight Into Mechanisms of Genotype\u2010Phenotype Correlations","volume":"12","author":"Florea L.","year":"2021","journal-title":"Genes (Basel)"},{"issue":"5","key":"e_1_2_11_10_1","first-page":"S213","article-title":"Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children\u00a0and Adolescents: Summary Report","volume":"128","author":"FOR, EXPERT PANEL ON INTEGRATED GUIDELINES, and RISK REDUCTION IN CHILDREN","year":"2011","journal-title":"Pediatrics"},{"issue":"18","key":"e_1_2_11_11_1","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1001\/jama.2020.20122","article-title":"Screening for High Blood Pressure in Children and Adolescents: US Preventive Services Task Force Recommendation Statement","volume":"324","author":"Force, U.S.P.S.T","year":"2020","journal-title":"JAMA"},{"key":"e_1_2_11_12_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Forsyth R.","year":"1993"},{"issue":"1","key":"e_1_2_11_13_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet\u2010Biedl Syndrome","volume":"21","author":"Forsythe E.","year":"2013","journal-title":"European Journal of Human Genetics"},{"issue":"3","key":"e_1_2_11_14_1","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1681\/ASN.2015091029","article-title":"Risk Factors for Severe Renal Disease in Bardet\u2010Biedl Syndrome","volume":"28","author":"Forsythe E.","year":"2017","journal-title":"Journal of the American Society of Nephrology: JASN"},{"issue":"1","key":"e_1_2_11_15_1","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s13023-024-03150-9","article-title":"Molecular and Phenotypic Characteristics of Bardet\u2010Biedl Syndrome in Chinese Patients","volume":"19","author":"Gao S.","year":"2024","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"2","key":"e_1_2_11_16_1","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1111\/cge.13768","article-title":"High Prevalence of Bardet\u2010Biedl Syndrome in La Reunion Island Is due to a Founder Variant in ARL6\/BBS3","volume":"98","author":"Gouronc A.","year":"2020","journal-title":"Clinical Genetics"},{"issue":"2","key":"e_1_2_11_17_1","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2022-060640","article-title":"Clinical Practice Guideline for the Evaluation and Treatment of Children and Adolescents With Obesity","volume":"151","author":"Hampl S. E.","year":"2023","journal-title":"Pediatrics"},{"issue":"11","key":"e_1_2_11_18_1","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1007\/s00467-016-3415-4","article-title":"Renal Transplantation in Bardet\u2010Biedl Syndrome","volume":"31","author":"Haws R. M.","year":"2016","journal-title":"Pediatric Nephrology"},{"issue":"1","key":"e_1_2_11_19_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.2215\/CJN.03320410","article-title":"Bardet\u2010Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort","volume":"6","author":"Imhoff O.","year":"2011","journal-title":"Clinical Journal of the American Society of Nephrology"},{"issue":"4","key":"e_1_2_11_20_1","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1111\/cge.12614","article-title":"Exploration of the Cognitive, Adaptive and Behavioral Functioning of Patients Affected With Bardet\u2010Biedl Syndrome","volume":"89","author":"Kerr E. N.","year":"2016","journal-title":"Clinical Genetics"},{"issue":"9","key":"e_1_2_11_21_1","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1002\/ajmg.a.63322","article-title":"Exome Sequencing in a Romanian Bardet\u2010Biedl Syndrome Cohort Revealed an Overabundance of Causal BBS12 Variants","volume":"191","author":"Khan S.","year":"2023","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"1","key":"e_1_2_11_22_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/cge.12737","article-title":"Genetics of Human Bardet\u2010Biedl Syndrome, an Updates","volume":"90","author":"Khan S. A.","year":"2016","journal-title":"Clinical Genetics"},{"issue":"4","key":"e_1_2_11_23_1","doi-asserted-by":"crossref","first-page":"S117","DOI":"10.1016\/j.kint.2023.10.018","article-title":"KDIGO 2024 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease","volume":"105","author":"Kidney Disease: Improving Global Outcomes, C.K.D.W.G","year":"2024","journal-title":"Kidney International"},{"issue":"12","key":"e_1_2_11_24_1","doi-asserted-by":"crossref","first-page":"e4417","DOI":"10.1210\/clinem\/dgaa551","article-title":"Reproduction Function in Male Patients With Bardet Biedl Syndrome","volume":"105","author":"Koscinski I.","year":"2020","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"issue":"3","key":"e_1_2_11_25_1","doi-asserted-by":"crossref","first-page":"574","DOI":"10.3892\/etm.2022.11511","article-title":"Central Precocious Puberty Occurring in Bardet\u2010Biedl Syndrome\u201010 as a Method for Self\u2010Protection of Human Reproductive Function: A Case Report","volume":"24","author":"Li H.","year":"2022","journal-title":"Experimental and Therapeutic Medicine"},{"issue":"1","key":"e_1_2_11_26_1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13052-019-0659-1","article-title":"Mutation Profile of BBS Genes in Patients With Bardet\u2010Biedl Syndrome: An Italian Study","volume":"45","author":"Manara E.","year":"2019","journal-title":"Italian Journal of Pediatrics"},{"key":"e_1_2_11_27_1","doi-asserted-by":"crossref","first-page":"34764","DOI":"10.1038\/srep34764","article-title":"Genetic and Clinical Characterization of Pakistani Families With Bardet\u2010Biedl Syndrome Extends the Genetic and Phenotypic Spectrum","volume":"6","author":"Maria M.","year":"2016","journal-title":"Scientific Reports"},{"issue":"4","key":"e_1_2_11_28_1","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.a.30406","article-title":"Clinical and Genetic Epidemiology of Bardet\u2010Biedl Syndrome in Newfoundland: A 22\u2010Year Prospective, Population\u2010Based, Cohort Study","volume":"132","author":"Moore S. J.","year":"2005","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"5","key":"e_1_2_11_29_1","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1210\/jc.2017-01459","article-title":"The Endocrine and Metabolic Characteristics of a Large Bardet\u2010Biedl Syndrome Clinic Population","volume":"103","author":"Mujahid S.","year":"2018","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"issue":"7","key":"e_1_2_11_30_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes13071218","article-title":"Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort","volume":"13","author":"Nasser F.","year":"2022","journal-title":"Genes (Basel)"},{"issue":"11","key":"e_1_2_11_31_1","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1002\/humu.23862","article-title":"Meta\u2010Analysis of Genotype\u2010Phenotype Associations in Bardet\u2010Biedl Syndrome Uncovers Differences Among Causative Genes","volume":"40","author":"Niederlova V.","year":"2019","journal-title":"Human Mutation"},{"key":"e_1_2_11_32_1","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2024.1419025","article-title":"Spectrum of Pathogenic Variants and High Prevalence of Pathogenic BBS7 Variants in Russian Patients With Bardet\u2010Biedl Syndrome","volume":"15","author":"Orlova M.","year":"2024","journal-title":"Frontiers in Genetics"},{"issue":"2","key":"e_1_2_11_33_1","doi-asserted-by":"crossref","DOI":"10.1111\/ijpo.12703","article-title":"Bardet\u2010Biedl Syndrome: Weight Patterns and Genetics in a Rare Obesity Syndrome","volume":"16","author":"Pomeroy J.","year":"2021","journal-title":"Pediatric Obesity"},{"issue":"1","key":"e_1_2_11_34_1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1097\/MED.0000000000000788","article-title":"Diabetes mellitus in Bardet Biedl syndrome","volume":"30","author":"Pomeroy J.","year":"2023","journal-title":"Current Opinion in Endocrinology, Diabetes, and Obesity"},{"issue":"9","key":"e_1_2_11_35_1","doi-asserted-by":"crossref","DOI":"10.1111\/ijpo.70026","article-title":"Clinical Burden of Hyperphagia, Obesity and Health Outcomes in Paediatric Individuals With Bardet\u2010Biedl Syndrome: A CRIBBS Data Analysis","volume":"20","author":"Pomeroy J.","year":"2025","journal-title":"Pediatric Obesity"},{"key":"e_1_2_11_36_1","article-title":"Streamlining Diagnosis of Bardet\u2010Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria","author":"Pomeroy J. J.","year":"2026","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"4","key":"e_1_2_11_37_1","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2024-095986","article-title":"Healthcare Needs, Care Use and Health Status Outcomes in Adults With Bardet\u2010Biedl Syndrome: A Cross\u2010Sectional Study in Norway","volume":"15","author":"Rustad C. F.","year":"2025","journal-title":"BMJ Open"},{"issue":"1","key":"e_1_2_11_38_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s13023-025-03641-3","article-title":"Clinical and Genetic Aspects of Bardet\u2010Biedl Syndrome in Adults in Norway","volume":"20","author":"Rustad C. F.","year":"2025","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"2","key":"e_1_2_11_39_1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/dom.15494","article-title":"Bardet\u2010Biedl Syndrome: A Clinical Overview Focusing on Diagnosis, Outcomes and Best\u2010Practice Management","volume":"26","author":"Shoemaker A.","year":"2024","journal-title":"Diabetes, Obesity & Metabolism"},{"issue":"10","key":"e_1_2_11_40_1","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/S0026-0495(96)90240-1","article-title":"Empty Sellae, Impaired Testosterone Secretion, and Defective Hypothalamic\u2010Pituitary Growth and Gonadal Axes in Children With Bardet\u2010Biedl Syndrome","volume":"45","author":"Soliman A. T.","year":"1996","journal-title":"Metabolism"},{"issue":"3","key":"e_1_2_11_41_1","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1210\/jc.2016-2573","article-title":"Pediatric Obesity\u2010Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline","volume":"102","author":"Styne D. M.","year":"2017","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"issue":"2","key":"e_1_2_11_42_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1001\/jama.2025.19615","article-title":"Metabolic Dysfunction\u2010Associated Steatotic Liver Disease in Adults: A Review","volume":"335","author":"Tilg H.","year":"2026","journal-title":"JAMA"},{"issue":"2","key":"e_1_2_11_43_1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/dom.15480","article-title":"Bardet\u2010Biedl Syndrome: A Focus on Genetics, Mechanisms and Metabolic Dysfunction","volume":"26","author":"Tomlinson J. W.","year":"2024","journal-title":"Diabetes, Obesity and Metabolism"},{"key":"e_1_2_11_44_1","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/978-3-319-95046-4_33","article-title":"Ciliopathy: Bardet\u2010Biedl Syndrome","volume":"1085","author":"Tsang S. H.","year":"2018","journal-title":"Advances in Experimental Medicine and Biology"},{"issue":"19","key":"e_1_2_11_45_1","doi-asserted-by":"crossref","first-page":"e127","DOI":"10.1016\/j.jacc.2017.11.006","article-title":"2017 ACC\/AHA\/AAPA\/ABC\/ACPM\/AGS\/APhA\/ASH\/ASPC\/NMA\/PCNA Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults: A Report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines","volume":"71","author":"Whelton P. K.","year":"2018","journal-title":"Journal of the American College of Cardiology"},{"issue":"5","key":"e_1_2_11_46_1","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1097\/HEP.0000000000001368","article-title":"AASLD Practice Statement on the Evaluation and Management of Metabolic Dysfunction\u2010Associated Steatotic Liver Disease in Children","volume":"82","author":"Xanthakos S. A.","year":"2025","journal-title":"Hepatology"},{"issue":"2","key":"e_1_2_11_47_1","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ekir.2024.10.030","article-title":"CKD in Bardet\u2010Biedl Syndrome: Evidence Supporting Multifactorial Etiology","volume":"10","author":"Zacchia M.","year":"2025","journal-title":"Kidney International Reports"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70276","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70276","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T04:22:13Z","timestamp":1786681333000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,13]]},"references-count":46,"alternative-id":["10.1002\/ajmg.a.70276"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70276","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,13]]},"assertion":[{"value":"2026-02-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ajmg.a.70276"}}