Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

被引：14
|
作者：
Monies, D. [1 ,2 ]
Anabrees, J. [3 ]
Ibrahim, N. [1 ]
Elbardisy, H. [1 ,2 ]
Abouelhoda, M. [1 ,2 ]
Meyer, B. F. [1 ,2 ]
Alkuraya, F. S. [1 ,2 ,4 ]
机构：
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia
[2] King Abdulaziz City Sci & Technol, Saudi Human Genome Program, Riyadh, Saudi Arabia
[3] Arrayan Hosp, Dept Pediat, Dr Sulaiman Al Habib Med Grp, Riyadh, Saudi Arabia
[4] Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
来源：
CLINICAL GENETICS | 2018年 / 93卷 / 06期
关键词：
ceramide; collodion; glucosylceramide; ichthyosis; UGCG; DIFFERENTIATION;
D O I：
10.1111/cge.13180
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1252 / 1253
页数：2
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