First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24

J Dermatol Sci. 2017 Jan;85(1):63-65. doi: 10.1016/j.jdermsci.2016.10.010. Epub 2016 Oct 19.

Authors

Ryota Hayashi¹, Kazue Yoshida², Riichiro Abe¹, Hironori Niizeki², Yutaka Shimomura³

Affiliations

¹ Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
² Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
³ Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address: yshimo@med.niigata-u.ac.jp.

PMID: 27780627
DOI: 10.1016/j.jdermsci.2016.10.010

No abstract available

Publication types

Case Reports
Letter

MeSH terms

ATP-Binding Cassette Transporters / genetics*
ATP-Binding Cassette Transporters / metabolism
Chromosomes, Human, Pair 17 / genetics*
DNA Copy Number Variations*
Female
Genetic Diseases, X-Linked / genetics*
Hair Follicle / metabolism*
Hair Follicle / pathology
Humans
Hypertrichosis / congenital*
Hypertrichosis / genetics
Infant
Japan
Pedigree
SOX9 Transcription Factor / genetics
SOX9 Transcription Factor / metabolism

Substances

ABCA5 protein, human
ATP-Binding Cassette Transporters
SOX9 Transcription Factor
SOX9 protein, human

Supplementary concepts

Hypertrichosis congenital generalized X-linked