Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

被引：10

作者：

Coman, D. ^{[1
]}

Bostock, D. ^{[2
]}

Hunter, M. ^{[1
]}

Kannu, P. ^{[1
]}

Irving, M. ^{[1
]}

Mayne, V. ^{[3
]}

Fietz, M. ^{[4
]}

Jaeken, J. ^{[5
]}

Savarilrayan, R. ^{[1
]}

机构：

[1] Royal Childrens Hosp, Murdoch Childrens Res Inst, Genet Hlth Serv Victoria, Parkville, Vic 3052, Australia

[2] Monash Med Ctr, Newborn Serv, Melbourne, Vic, Australia

[3] Monash Med Ctr, Dept Radiol, Melbourne, Vic, Australia

[4] Womens & Childrens Hosp, Natl Referral Lab, Adelaide, SA, Australia

[5] Univ Hosp Gasthuisberg, B-3000 Louvain, Belgium

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 03期

关键词：

D O I：

10.1002/ajmg.a.32119

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：389 / 392

页数：4

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