| Natural history of Christianson syndrome. | |
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MedLine Citation:
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PMID: 20949524 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI and elevated glutamate/glutamine in the basal ganglia on MRS. Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys. |
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Authors:
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Richard J Schroer; Kenton R Holden; Patrick S Tarpey; Maria Giselle Matheus; David A Griesemer; Michael J Friez; Jane Zheng Fan; Richard J Simensen; Petter Strømme; Roger E Stevenson; Michael R Stratton; Charles E Schwartz |
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Publication Detail:
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Type: Journal Article |
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 Nov |
Date Detail:
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Created Date: 2010-10-27 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: 2775-83 Citation Subset: IM |
Copyright Information:
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© 2010 Wiley-Liss, Inc. |
Affiliation:
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Greenwood Genetic Center, Greenwood, South Carolina, USA. schroer@ggc.org |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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