Congenital Disorder of Glycosylation IIa: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism

被引:9
作者
Alazami, Anas M.
Monies, Dorota
Meyer, Brian F.
Alzahrani, Fatema
Hashem, Mais
Salih, Mustafa A. [2 ,3 ]
Alkuraya, Fowzan S. [1 ,2 ,3 ,4 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Dev Genet Unit, Dept Genet, Riyadh 11211, Saudi Arabia
[2] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia
[3] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
[4] Alfaisal Univ, Dept Anat & Cell Biol, Coll Med, Riyadh, Saudi Arabia
关键词
MENTAL-RETARDATION; GROWTH-RETARDATION;
D O I
10.1002/ajmg.a.34347
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:245 / 246
页数:2
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