Publication
Title
Mutations in the cyclin family member **FAM58A** cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
Author
Abstract
We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single motherdaughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder. Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome.
Language
English
Source (journal)
Nature genetics. - New York, N.Y.
Publication
New York, N.Y. : 2008
ISSN
1061-4036
Volume/pages
40:3(2008), p. 287-289
ISI
000253548400018
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 05.06.2012
Last edited 24.06.2017