Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy,Molecular Genetics & Genomic Medicine

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Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-08 , DOI: 10.1002/mgg3.1524
Xinyue Zhang ₁ , Yanqin You ₁ , Xiaoxiao Xie ₁ , Hong Xu ₂ , Honghui Zhou ₁ , Yuanmei Lei ₃ , Pei Sun ₄ , Yuanguang Meng ₁ , Longxia Wang ₂ , Yanping Lu ₁

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Skeletal ciliopathies are a group of clinically and genetically heterogeneous disorders with the spectrum of severity spanning from relatively mild to prenatally lethal. The aim of our study was to identify pathogenic mutations in a Chinese family with two siblings presenting a Short‐rib polydactyly syndrome (SRPS)‐like phenotype.

更新日期：2020-10-08

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