| Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. | |
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MedLine Citation:
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PMID: 20949522 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation. |
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Authors:
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Esther G J Rijntjes-Jacobs; Enrico Lopriore; Sylke J Steggerda; Sarina G Kant; Frans J Walther |
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: 2816-9 Citation Subset: IM |
Copyright Information:
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© 2010 Wiley-Liss, Inc. |
Affiliation:
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Division of Neonatology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands. e.g.j.rijntjes@kpnplanet.nl |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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