Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy

BACKGROUND: 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...

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Publicat a:Mol Genet Genomic Med
Autors principals: Zhang, Xinyue, You, Yanqin, Xie, Xiaoxiao, Xu, Hong, Zhou, Honghui, Lei, Yuanmei, Sun, Pei, Meng, Yuanguang, Wang, Longxia, Lu, Yanping
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7767551/
https://ncbi.nlm.nih.gov/pubmed/33030252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1524
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