Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

Whole-exome sequencing (WES) has advantages over the traditional molecular test by screening 20,000 genes simultaneously and has become an invaluable tool for genetic diagnosis in clinical practice. Here, we reported a family with a child and a fetus presenting undiagnosed skeletal dysplasia phenoty...

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Detalles Bibliográficos
Autores principales: Tang, Yen-An, Wang, Lin-Yen, Chang, Chiao-May, Lee, I-Wen, Tsai, Wen-Hui, Sun, H. Sunny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457090/
https://www.ncbi.nlm.nih.gov/pubmed/32922437
http://dx.doi.org/10.3389/fgene.2020.00897

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7457090/
https://www.ncbi.nlm.nih.gov/pubmed/32922437
http://dx.doi.org/10.3389/fgene.2020.00897

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