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

页码：127 / 128

页数：2

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