New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation

被引：16

作者：

Smigiel, R. ^{[1
]}

Biela, M. ^{[1
]}

Biernacka, A. ^{[2
,3
]}

Stembalska, A. ^{[4
]}

Sasiadek, M. ^{[4
]}

Kosinska, J. ^{[2
]}

Rydzanicz, M. ^{[2
]}

Ploski, R. ^{[2
]}

机构：

[1] Wroclaw Med Univ, Dept Pediat & Rare Disorders, Wroclaw, Poland

[2] Med Univ Warsaw, Dept Med Genet, Warsaw, Poland

[3] Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland

[4] Wroclaw Med Univ, Dept Genet, Wroclaw, Poland

来源：

CLINICAL GENETICS | 2017年 / 92卷 / 06期

关键词：

D O I：

10.1111/cge.13080

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：671 / 673

页数：3

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[3] Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay [J].

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Muenke, M. .

CLINICAL GENETICS, 2017, 91 (06) :913-917

[4]

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[5]

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