Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.

Minna LuoZaisheng LinTian ZhuMinjun JinDan MengRuida HeZongfu CaoYue ShenChao LuRuikun CaiYong ZhaoXueyan WangHui LiShijing WuXuan ZouGuanjun LuoLi CaoMin HuangHuike JiaoHuafang GaoRuifang SuiChengtian ZhaoXu MaMuqing Cao

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

IFT74 is identified as a JBTS-related gene. Cellular and biochemical mechanisms are also provided.

Keyphrases

copy number
genome wide
case report
dna methylation
genome wide analysis