Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia

Hidenobu Kaneyasu, Kazumasa Takahashi, Naoki Ohta, Seigo Okada, Sasagu Kimura, Shuichiro Yasuno, Susumu Murata, Shunsaku Katsura, Naoyuki Yamada, Koji Shiraishi, Junko Tsuda, Shunsuke Miyai, Hiroki Kurahashi, Shunji Hasegawa, Yutaka Shimomura