Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

BACKGROUND: Whole‐exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find the potential genetic cause of skeletal disease, a heterogeneous disease, revealing the obvious short stature phenotype. In an Iranian fa...

Descripción completa

Detalles Bibliográficos
Autores principales: Razmara, Ehsan, Azimi, Homeyra, Bitaraf, Amirreza, Daneshmand, Mohammad Ali, Galehdari, Mohammad, Dokhanchi, Maryam, Esmaeilzadeh‐Gharehdaghi, Elika, Garshasbi, Masoud
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/PMC7057126/
https://www.ncbi.nlm.nih.gov/pubmed/31944631
http://dx.doi.org/10.1002/mgg3.1118

Ejemplares similares

Ejemplares similares