| Elejalde syndrome--a case report. | |
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MedLine Citation:
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PMID: 16969863 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Elejalde syndrome (McKusick 200995), also known as acrocephalopolydactylous dysplasia, is a rare condition. We describe a sixth patient with this syndrome which is characterized by craniosynostosis and hyperproliferation of fibroblasts in many tissues including skin, liver, kidney, and pancreas. The cause of the syndrome is the homozygous state of an autosomal recessive mutation. We present a hypothesis that Elejalde syndrome might be associated with an inactivating FGFR gene mutation. |
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Authors:
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Eva Silhánová; Pavlína Plevová; Romuald Curík; Ivo Kaspercík; Anna Krepelová |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 140 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2006 Oct |
Date Detail:
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Created Date: 2006-09-28 Completed Date: 2006-12-13 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: 2223-6 Citation Subset: IM |
Copyright Information:
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(c) 2006 Wiley-Liss, Inc. |
Affiliation:
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Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology*,
radiography Craniosynostoses / genetics*, pathology*, radiography Female Humans Infant, Newborn Kidney / pathology Liver / pathology Pancreas / pathology Skin / pathology Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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