Additional causal SNRPE mutations in hereditary hypotrichosis simplex
Br J Dermatol
.
2021 Aug;185(2):439-441.
doi: 10.1111/bjd.20089.
Epub 2021 May 25.
Authors
C Pan
1
2
,
A Humbatova
3
,
L Zheng
1
2
,
N Cesarato
3
,
C Grimm
4
,
F Chen
1
2
,
B Blaumeiser
5
,
A Catalán-Lambán
6
,
A Patiño-García
6
,
U Fischer
4
,
R Cheng
1
,
Y Li
1
2
,
X Yu
1
,
Z Yao
1
2
,
M Li
1
2
7
,
R C Betz
3
Affiliations
1
Department of Dermatology, Xinhua Hospital, Shanghai, China.
2
Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
3
Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
4
Department of Biochemistry, University of Würzburg, Würzburg, Germany.
5
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
6
Department of Pediatrics, Clínica Universidad de Navarra, Pamplona, Spain.
7
Center for Rare Diseases Diagnosis, Shanghai, China.
PMID:
33792916
DOI:
10.1111/bjd.20089
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Humans
Hypotrichosis* / genetics
Mutation / genetics
Pedigree
snRNP Core Proteins
Substances
SNRPE protein, human
snRNP Core Proteins
Supplementary concepts
Hypotrichosis simplex