Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene

被引：6

作者：

Danarti, Retno ^{[1
]}

Grzeschik, Karl-Heinz ^{[2
]}

Radiono, Sunardi ^{[1
]}

Koenig, Arne ^{[3
]}

Happle, Rudolf ^{[3
]}

机构：

[1] Gadjah Mada Univ, Fac Med, Dept Dermatovenereol, Sekip 55281, Yogyakarta, Indonesia

[2] Univ Marburg, Dept Human Genet, D-35037 Marburg, Germany

[3] Univ Marburg, Dept Dermatol, D-35037 Marburg, Germany

来源：

EUROPEAN JOURNAL OF DERMATOLOGY | 2010年 / 20卷 / 05期

关键词：

D O I：

10.1684/ejd.2010.0995

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：634 / 635

页数：3

共 6 条

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Baptista, AP ;

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Vabres, P ;

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Sasaoka, K ;

Tanaka, T ;

Meiss, AL ;

Treadwell, PA ;

Lambert, D ;

Camacho, F ;

Grzeschik, KH .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (02) :e17

[2]

Grzeschik KH, 2002, INT J DEV BIOL, V46, P983

[3] THE CHILD SYNDROME - CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS [J].

HAPPLE, R ;

KOCH, H ;

LENZ, W .

EUROPEAN JOURNAL OF PEDIATRICS, 1980, 134 (01) :27-33

[4]

HAPPLE R, 1993, ARCH DERMATOL, V129, P1460, DOI 10.1001/archderm.1993.01680320094012

[5] Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene [J].

Hummel, M ;

Cunningham, D ;

Mullett, CJ ;

Kelley, RI ;

Herman, GE .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (03) :246-251

[6]

König A, 2000, AM J MED GENET, V90, P339

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