PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy

Taro Okuda, Takahiro Yonekawa, Yoshiko Murakami, Taroh Kinoshita, Takahiro Ito, Kohei Matsushita, Yuhki Koike, Mikihiro Inoue, Keiichi Uchida, Noriko Yodoya, Hiroyuki Ohashi, Hirofumi Sawada, Shotaro Iwamoto, Yoshihide Mitani, Masahiro Hirayama

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Medicine & Life Sciences