| Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review. | |
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MedLine Citation:
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PMID: 20635354 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition. |
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Authors:
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Ashwin B Dalal; Anujit Sarkar; T Padma Priya; Madhusudan R Nandineni |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2057-60 Citation Subset: IM |
Affiliation:
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Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. ashwindalal@gmail.com |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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