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A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.

作者信息

Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K

出版信息

Clin Genet. 2001 Oct;60(4):314-5. doi: 10.1034/j.1399-0004.2001.600411.x.

DOI:10.1034/j.1399-0004.2001.600411.x

Abstract

摘要

相似文献

[1]

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.

Clin Genet. 2001-10

[2]

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

Eur J Pediatr. 2005-8

[3]

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

J Med Genet. 2002-8

[4]

A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?

Pediatr Dermatol. 2011

[5]

The p63 gene in EEC and other syndromes.

J Med Genet. 2002-6

[6]

Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

Genet Couns. 2008

[7]

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.

Clin Exp Dermatol. 2005-5

[8]

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

Cell. 1999-10-15

[9]

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Am J Hum Genet. 2001-9

[10]

Ectrodactyly-ectodermal dysplasia-clefting syndrome associated with p63 mutation and an uncommon phenotype.

Cleft Palate Craniofac J. 2010-9

引用本文的文献

[1]

Am J Hum Genet. 2002-7

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