A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11

Liu, YD; Huang, SS; Li, M; Lek, M; Song, DY; Tan, DD; Chen, XY; Zhang, H; Liu, JY; Chang, XZ; Xiong, H

Xiong, H (通讯作者)，Peking Univ First Hosp, Dept Pediat, 1 Xian Men St, Beijing 100034, Peoples R China.

CLINICAL GENETICS, 2022; 101 (4): 448

Abstract

Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseas......

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