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AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.

作者信息

Sorasio L, Ferrero G B, Garelli E, Brunello G, Martano C, Carando A, Belligni E, Dianzani I, Cirillo Silengo M

出版信息

Eur J Med Genet. 2006 Nov-Dec;49(6):520-2. doi: 10.1016/j.ejmg.2006.05.003. Epub 2006 Jun 30.

DOI:10.1016/j.ejmg.2006.05.003
PMID:16824815
Abstract
摘要

相似文献

[1]
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.

Eur J Med Genet. 2006

[2]
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[3]
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[4]
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[5]
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[6]
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[7]
An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.

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[8]
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.

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[9]
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[10]
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

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引用本文的文献

[1]
DeltaNp63 knockdown mice: A mouse model for AEC syndrome.

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[2]
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