CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family

Cystic fibrosis (CF) is one of the most common recessive genetic diseases, with a wide spectrum of phenotypes, ranging from infertility to severe pulmonary disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are considered the main genetic cause for CF. In this...

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Detalles Bibliográficos
Autores principales: Ghouchanatigh, Mahdieh Daliri, Khan, Ranjha, Mojarrad, Majid, Hameed, Uzma, Zubair, Muhammad, Waqas, Ahmed, Jalali, Mohsen, Kalantari, Mahmoudreza, Shamsa, Ali, Zhang, Huan, Shi, Qing-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295469/
https://www.ncbi.nlm.nih.gov/pubmed/34755701
http://dx.doi.org/10.4103/aja202177

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