Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese

BACKGROUND: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in two unrelated outbred Han–Ch...

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Detalles Bibliográficos
Autores principales: Li, Ruibing, Wang, Jianan, Wang, Longxia, Lu, Yanping, Wang, Chengbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057086/
https://www.ncbi.nlm.nih.gov/pubmed/31898422
http://dx.doi.org/10.1002/mgg3.1105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057086/
https://www.ncbi.nlm.nih.gov/pubmed/31898422
http://dx.doi.org/10.1002/mgg3.1105

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