Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing

Br J Dermatol. 2017 Jan;176(1):249-251. doi: 10.1111/bjd.14807. Epub 2016 Dec 7.

Authors

R Saito^{1

2}, A Boyce^{1

3}, C-K Hsu^{1

4

5}, E Rashidghamat¹, M Hide², E K Wedgeworth³, C Flohr^{1

3}, J E Mellerio^{1

3}, J A McGrath¹

Affiliations

¹ St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
² Department of Dermatology, Hiroshima University, Hiroshima, Japan.
³ St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.
⁴ Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
⁵ Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

PMID: 27291450
DOI: 10.1111/bjd.14807

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Humans
Ichthyosis, Lamellar / genetics*
Infant
Keratin-10 / genetics
Male
Mutation / genetics
Phenotype
RNA Splice Sites / genetics
Sequence Analysis, DNA

Substances

KRT10 protein, human
RNA Splice Sites
Keratin-10