A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

被引：12

作者：

Jamsheer, A. ^{[1
,3
]}

Badura-Stronka, M. ^{[1
,3
]}

Sowinska, A. ^{[1
,3
]}

Debicki, S. ^{[1
,3
]}

Kiryluk, K. ^{[2
]}

Latos-Bielenska, A. ^{[1
,3
]}

机构：

[1] NZOZ Ctr Med Genet, Poznan, Poland

[2] Columbia Univ, Dept Med, New York, NY USA

[3] Univ Med Sci, Dept Med Genet, Poznan, Poland

来源：

CLINICAL GENETICS | 2010年 / 78卷 / 01期

关键词：

VARIABLE EXPRESSION; OSSEOUS DYSPLASIA; PHENOTYPE;

D O I：

10.1111/j.1399-0004.2010.01412.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：94 / 97

页数：4

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