Case of xeroderma pigmentosum group A with West syndrome

J Dermatol. 2018 Dec;45(12):e334-e336. doi: 10.1111/1346-8138.14487. Epub 2018 May 24.

Authors

Aiko Nakao¹, Hideaki Tanizaki¹, Akitoshi Yu¹, Atsushi Araki², Shinichi Moriwaki¹

Affiliations

¹ Department of Dermatology, Osaka Medical College, Takatsuki, Osaka, Japan.
² Department of Pediatrics, Kansai Medical University, Hirakata, Osaka, Japan.

PMID: 29797530
DOI: 10.1111/1346-8138.14487

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Electroencephalography
Female
Genetic Testing
Humans
Infant
Spasms, Infantile / complications*
Spasms, Infantile / diagnosis
Xeroderma Pigmentosum / complications*
Xeroderma Pigmentosum / diagnosis
Xeroderma Pigmentosum / genetics
Xeroderma Pigmentosum Group A Protein / genetics

Substances

XPA protein, human
Xeroderma Pigmentosum Group A Protein