因p63基因突变导致的EEC综合征与伊藤色素减退症的罕见组合。 - Suppr

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

作者信息

Lehmann Katarina, Mundlos Stefan, Meinecke Peter

机构信息

Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

出版信息

Eur J Pediatr. 2005 Aug;164(8):530-1. doi: 10.1007/s00431-005-1680-5. Epub 2005 May 12.

DOI:10.1007/s00431-005-1680-5

PMID:15889277

Abstract

摘要

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An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

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本文引用的文献

The p63 gene in EEC and other syndromes.

J Med Genet. 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377.

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3.

p63 is a p53 homologue required for limb and epidermal morphogenesis.

Nature. 1999 Apr 22;398(6729):708-13. doi: 10.1038/19531.

ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.

Am J Med Genet. 1993 Mar 1;45(5):642-8. doi: 10.1002/ajmg.1320450525.

Hypomelanosis of Ito and ectrodactyly.

Cleft Palate J. 1980 Oct;17(4):337-9.

A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

Cleft Palate J. 1979 Oct;16(4):358-62.

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An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

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