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Title
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Mutations in the cyclin family member **FAM58A** cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Nature genetics. - New York, N.Y.
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Publication
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New York, N.Y.
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2008
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ISSN
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1061-4036
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Volume/pages
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40
:3
(2008)
, p. 287-289
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ISI
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000253548400018
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Full text (Publisher's DOI)
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