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

被引：15

作者：

Kosaki, R ^{[1
]}

Ohashi, H ^{[1
]}

Yoshihashi, H ^{[1
]}

Suzuki, T ^{[1
]}

Kosaki, K ^{[1
]}

机构：

[1] Keio Univ, Sch Med, Div Med Genet & Dysmorphol,Dept Pediat, Shinjuku Ku, Tokyo 1608582, Japan

来源：

CLINICAL GENETICS | 2001年 / 60卷 / 04期

关键词：

D O I：

10.1034/j.1399-0004.2001.600411.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：314 / 315

页数：2

共 6 条

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[4] Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 [J].

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[5] ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING (EEC) SYNDROME - DOMINANT INHERITANCE AND VARIABLE EXPRESSION [J].

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JOURNAL OF MEDICAL GENETICS, 1976, 13 (04) :281-284

[6] Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome [J].

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CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2000, 25 (05) :441-443

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