A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. Issue 7 (3rd May 2016)

• Record Type: Journal Article
• Authors: Escobar, Luis F.; Tucker, Megan; Bamshad, Michael
• Is Part Of: American journal of medical genetics. Volume 170:Issue 7(2016)
• Page Start: 1908
• Page End: 1911
• Publication Date: 2016-05-03
• Subjects: CATSHL -- FGFR3 -- hearing loss -- camptodactyly -- tall stature; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37676
• Languages: English
• ISSNs: 1552-4825

Abstract

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.