Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7
Br J Dermatol
.
2017 Sep;177(3):e62-e64.
doi: 10.1111/bjd.15315.
Epub 2017 Jul 19.
Authors
T Takeichi
1
2
,
T Nomura
3
,
H Takama
4
,
M Kono
1
,
K Sugiura
5
,
D Watanabe
4
,
H Shimizu
3
,
M A Simpson
6
,
J A McGrath
2
,
M Akiyama
1
Affiliations
1
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
2
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.
3
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
4
Department of Dermatology, Aichi Medical University, Nagakute, Japan.
5
Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.
6
Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, U.K.
PMID:
28112794
DOI:
10.1111/bjd.15315
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Aged
Female
Frameshift Mutation / genetics*
Homozygote
Humans
Ichthyosis, Lamellar / genetics*
Oxidoreductases / genetics*
Sequence Deletion / genetics*
Substances
Oxidoreductases
SDR9C7 protein, human