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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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| 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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English
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| Source (journal) |
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Nature genetics. - New York, N.Y. | |
| Publication |
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New York, N.Y. : 2008
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1061-4036
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40:3(2008), p. 287-289
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000253548400018
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