Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.
Kaneyasu H, Takahashi K, Ohta N, Okada S, Kimura S, Yasuno S, Murata S, Katsura S, Yamada N, Shiraishi K, Tsuda J, Miyai S, Kurahashi H, Hasegawa S, Shimomura Y.
Kaneyasu H, et al. Among authors: tsuda j.
J Dermatol. 2023 Feb;50(2):239-244. doi: 10.1111/1346-8138.16553. Epub 2022 Aug 23.
J Dermatol. 2023.
PMID: 35996939