The First Reported Japanese Case of PNPLA1‐Nonsyndromic Epidermal Differentiation Disorder (PNPLA1‐nEDD) Associated With an Unreported 92‐Base‐Pair Duplication Variant

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Shiori Kato, Takuya Takeichi, Keisuke Jojima, Maiko Kato, Michiya Omi, Kana Tanahashi, Atsushi Otsuka, Yoshinao Muro, Akio Kihara, Masashi Akiyama
Format: Artículo Open Access
Published: Wiley 2025
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