Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

被引：13

作者：

Courtens, W

Johansson, AB

Dachy, B

Avni, F

Telerman-Toppet, N

Scheffer, H

机构：

[1] Univ Hosp Brugmann, Dept Med Genet, Brussels, Belgium

[2] Childrens Univ Hosp Queen Fabiola, Dept Neonatol, Brussels, Belgium

[3] Univ Hosp Brugmann, Dept Neurol, Brussels, Belgium

[4] Childrens Univ Hosp Queen Fabiola, Dept Paediat Radiol, Brussels, Belgium

[5] Univ Groningen, Dept Med Genet, Groningen, Netherlands

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 01期

关键词：

D O I：

10.1136/jmg.39.1.74

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：74 / 77

页数：4

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