| Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family. | |
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MedLine Citation:
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PMID: 18618993 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder of the phosphocalcic metabolism caused by mutations in the FGF23 or GALNT3 genes. We have identified a Beninese family in which two brothers present FTC caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of GALNT3 gene. We report on the clinical, biochemical, histopathological and molecular spectrum of the disorder in this family. The particularly severe phenotype, the amelogenesis imperfecta, and the carbapatite deposit observed in these patients, seem to be characteristic of our observations. |
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Authors:
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A Laleye; M J Alao; G Gbessi; M Adjagba; M Marche; I Coupry; I Redonnet-Vernhet; S Lepreux; B Ayivi; R B Darboux; D Lacombe; B Arveiler |
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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: Genetic counseling (Geneva, Switzerland) Volume: 19 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2008 |
Date Detail:
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Created Date: 2008-07-14 Completed Date: 2008-09-09 Revised Date: 2008-10-28 |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 183-92 Citation Subset: IM |
Affiliation:
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Unité de Biologie Humaine, Faculté des Sciences de la Santé, Cotonou, Bénin. cytogen@intnet.bj |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult African Continental Ancestry Group / genetics* Amelogenesis Imperfecta / genetics, pathology Apatites / blood Benin Calcinosis / genetics*, pathology Humans Hyperphosphatemia / genetics, pathology Joint Diseases / genetics*, pathology Male Mutation* N-Acetylgalactosaminyltransferases / genetics* Pedigree Siblings |
| Chemical | |
Reg. No./Substance:
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0/Apatites; EC 2.4.1.-/N-Acetylgalactosaminyltransferases; EC 2.4.1.41/polypeptide N-acetylgalactosaminyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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