|
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
| |
|
DOI
|
|
|
|
10.1038/NG.86
| |
|
Volume/pages
|
|
|
|
40
:3
(2008)
, p. 287-289
| |
|
ISI
|
|
|
|
000253548400018
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|