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A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.

Pinar Ozkan Kart,Yavuz Sahin,Nihal Yildiz,Alper Han Cebi,Gulnur Esenulku,Ali Cansu

MOLECULAR SYNDROMOLOGY（2024）

引用 0|浏览13
关键词
Two different sexes,Neurological involvement,New mutation,Perrault syndrome
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