| Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene. | |
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MedLine Citation:
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PMID: 21964978 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have been reported so far. We report on an additional seven patients (four males and three females) from two highly consanguineous Arab families from Qatar, presenting with a milder phenotype of WSS. These patients show the spectrum of clinical features previously found in WSS, but lack evidence of diabetes mellitus and extrapyramidal symptoms. These two new families further illustrate the natural course and the interfamilial phenotypic variability of WSS that may lead to challenges in making the diagnosis. In addition, our study suggests that WSS may not be as infrequent in the Arab world as previously thought. © 2011 Wiley Periodicals, Inc. |
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Authors:
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Tawfeg Ben-Omran; Rehab Ali; Mariam Almureikhi; Seham Alameer; Muna Al-Saffar; Christopher A Walsh; Jillian M Felie; Ahmad Teebi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-9-30 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-10-3 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
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Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar; Departments of Pediatrics and Genetic Medicine, Weil-Cornell Medical College, New York and Doha, Qatar. tawben11@hotmail.com. |
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