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Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome
Shigematsu, Yukiko, Hayashi, Ryota, Yoshida, Kazue, Shimizu, Ai, Kubota, Masaya, Komori, Manabu, Shimomura, Yutaka, Niizeki, HironoriLanguage:
english
Journal:
The Journal of Dermatology
DOI:
10.1111/1346-8138.13736
Date:
January, 2017
File:
PDF, 204 KB
english, 2017