Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene

J Dermatol. 2019 Jan;46(1):e21-e22. doi: 10.1111/1346-8138.14505. Epub 2018 Jun 15.

Authors

Mami Nakajima¹, Ryota Hayashi¹, Satoru Shinkuma¹, Mio Watanabe², Yohya Shigehara¹, Yutaka Shimomura³, Riichiro Abe¹

Affiliations

¹ Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
² Department of Neurology, Gunma Children's Medical Hospital, Shibukawa, Japan.
³ Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.

PMID: 29905390
DOI: 10.1111/1346-8138.14505

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Ectodermal Dysplasia 1, Anhidrotic / diagnosis
Ectodermal Dysplasia 1, Anhidrotic / genetics*
Ectodysplasins / genetics*
Genetic Testing
Humans
Infant
Male
Sequence Deletion

Substances

EDA protein, human
Ectodysplasins