Article
Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.
The Journal of dermatology - 1 Feb 2023
Kaneyasu Hidenobu, Takahashi Kazumasa, Ohta Naoki, Okada Seigo, Kimura Sasagu, Yasuno Shuichiro, Murata Susumu, Katsura Shunsaku, Yamada Naoyuki, Shiraishi Koji, Tsuda Junko, Miyai Shunsuke, Kurahashi Hiroki, Hasegawa Shunji, Shimomura Yutaka
Abstract excerpt
Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by the blistering of the skin and mucous membranes. Although the molecular basis of EB has been significantly elucidated, the precise phenotypes of the lethal types of EB have not been completely characterized. Herein, we report a severe case of EB with pyloric atresia (PA). The patient was a Japanese boy who not only had...
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