chondrodysplasia punctata

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
Kohji Kato, Yasuyoshi Oka, Hideki Muramatsu, Filipp F Vasilev, Takanobu Otomo, Hisashi Oishi, Yoshihiko Kawano, Hiroyuki Kidokoro, Yuka Nakazawa, Tomoo Ogi, Yoshiyuki Takahashi, Shinji Saitoh

Journal of Medical Genetics Apr 2020, 57 (4) 245-253; DOI: 10.1136/jmedgenet-2019-106213

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chondrodysplasia punctata