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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: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| 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 |