Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR 9C7-Reference-Cited by-同舟云学术

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR 9C7

Published:2017-07-19 Issue:3 Volume:177 Page:
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takeichi T.¹²^ORCID,Nomura T.³,Takama H.⁴,Kono M.¹^ORCID,Sugiura K.⁵,Watanabe D.⁴,Shimizu H.³,Simpson M.A.⁶,McGrath J.A.²,Akiyama M.¹

Affiliation:

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.

Funder

Japan Society for the Promotion of Science London

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.15315

Reference6 articles.

1. Pleomorphic Ichthyosis: Proposed Name for a Heterogeneous Group of Congenital Ichthyoses with Phenotypic Shifting and Mild Residual Scaling

2. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

3. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

4. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis;Shigehara Y;Hum Mol Genet,2016

5. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

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