A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis

被引：0
|
作者：
Jan, Hamadia [1 ]
Wasif, Naveed [2 ,3 ,4 ]
Naqvi, Syed Kamran-ul-Hassan [5 ]
Ullah, Imran [1 ]
Ahmad, Wasim [1 ]
机构：
[1] Quaid i Azam Univ Islamabad, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan
[2] Ulm Univ, Inst Human Genet, Ulm, Germany
[3] Ulm Univ Med Ctr, Ulm, Germany
[4] Univ Hosp Schleswig Holstein, Inst Human Genet, Kiel, Germany
[5] COMSATS Univ Islamabad, Dept Biosci, Islamabad, Pakistan
来源：
CONGENITAL ANOMALIES | 2023年 / 63卷 / 04期
关键词：
D O I：
10.1111/cga.12518
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：127 / 128
页数：2
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