Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

J Dermatol. 2016 Nov;43(11):1384-1385. doi: 10.1111/1346-8138.13373. Epub 2016 Apr 20.

Authors

Yoshimi Matsuo¹, Akio Tanaka², Yutaka Shimomura³, Michihiro Hide¹

Affiliations

¹ Department of Dermatology, Integrated Health Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
² Department of Dermatology, Integrated Health Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. [email protected].
³ Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

PMID: 27094727
DOI: 10.1111/1346-8138.13373

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Asian People
Child, Preschool
Hair / abnormalities*
Hair Diseases / genetics*
Humans
Japan
Lipase / genetics*
Male
Mutation
RNA Splice Sites

Substances

LIPC protein, human
RNA Splice Sites
Lipase

Supplementary concepts

Woolly Hair, Autosomal Recessive