Cargando…
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...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767551/ https://www.ncbi.nlm.nih.gov/pubmed/33030252 http://dx.doi.org/10.1002/mgg3.1524 |