Výsledky vyhledávání - "Zeng, Shaohao"

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome

Autor: He, Junyu, Liu, Xin, Liu, Liyi, Zeng, Shaohao, Shan, Shuanghong, Liao, Zhihong

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: Boucher–Neuhäuser syndrome (BNS, MIM 215470) is a rare autosomal recessive syndrome caused by mutations in the PNPLA6 gene. Few BNS cases have been reported for functional validation at the RNA level. Herein, we report on the family of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbfe9948920d1c11908aeddfdd348cb
https://doi.org/10.3389/fgene.2022.810537

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