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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-17216

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

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Abstract

We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter 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.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
DDC:570 Life sciences; biology
610 Medicine & health
Language:English
Date:March 2008
Deposited On:03 Mar 2009 16:08
Last Modified:02 Dec 2013 19:19
Publisher:Nature Publishing Group
ISSN:1061-4036
Publisher DOI:10.1038/ng.86
PubMed ID:18297069
Citations:Web of Science®. Times Cited: 14
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