title: A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
abstract: Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Our family confirms the consistent and unique phenotype of this condition, and the specificity of the mutation in FGFR3. The CATSHL syndrome appears to be an autosomal dominant disorder with full penetrance. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Medical Genetics and Neurodevelopmental Pediatrics Center, Payton Manning Children's Hospital, St. Vincent Hospital, Indianapolis, Indiana.
authors.forename: Luis F
authors.initials: LF
authors.lastname: Escobar
authors.affiliation: Medical Genetics and Neurodevelopmental Pediatrics Center, Payton Manning Children's Hospital, St. Vincent Hospital, Indianapolis, Indiana.
authors.forename: Megan
authors.initials: M
authors.lastname: Tucker
authors.affiliation: Center for Clinical and Translational Research, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
authors.forename: Michael
authors.initials: M
authors.lastname: Bamshad
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: CATSHL; FGFR3; camptodactyly; hearing loss; tall stature