Additional causal SNRPE mutations in hereditary hypotrichosis simplex

被引：5

作者：

Pan, C. ^{[1
,2
]}

Humbatova, A. ^{[3
,4
]}

Zheng, L. ^{[1
,2
]}

Cesarato, N. ^{[3
,4
]}

Grimm, C. ^{[5
]}

Chen, F. ^{[1
,2
]}

Blaumeiser, B. ^{[6
]}

Catalan-Lamban, A. ^{[7
]}

Patino-Garcia, A. ^{[7
]}

Fischer, U. ^{[5
]}

Cheng, R. ^{[1
]}

Li, Y. ^{[1
,2
]}

Yu, X. ^{[1
]}

Yao, Z. ^{[1
,2
]}

Li, M. ^{[1
,2
,8
]}

Betz, R. C. ^{[3
,4
]}

机构：

[1] Xinhua Hosp, Dept Dermatol, Shanghai, Peoples R China

[2] Shanghai Jiao Tong Univ, Sch Med, Inst Dermatol, Shanghai, Peoples R China

[3] Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany

[4] Univ Hosp Bonn, Bonn, Germany

[5] Univ Wurzburg, Dept Biochem, Wurzburg, Germany

[6] Univ Antwerp, Dept Med Genet, Antwerp, Belgium

[7] Clin Univ Navarra, Dept Pediat, Pamplona, Spain

[8] Ctr Rare Dis Diag, Shanghai, Peoples R China

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2021年 / 185卷 / 02期

关键词：

D O I：

10.1111/bjd.20089

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：439 / 441

页数：4

共 50 条

[1] Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal dominant hypotrichosis simplex
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[3] Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
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[7] A case of hereditary hypotrichosis simplex
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[9] HEREDITARY HYPOTRICHOSIS SIMPLEX OF THE SCALP
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[10] Hereditary hypotrichosis simplex: report of a family
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