A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

Male infertility is a major reproductive disorder, which is clinically characterized by highly heterogeneous phenotypes of abnormal sperm count or quality. To date, five male patients with biallelic loss-of-function (LOF) variants of PARN-like ribonuclease domain-containing exonuclease 1 (PNLDC1) ha...

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Detalles Bibliográficos
Autores principales: Zhao, Si-Yi, Meng, Lan-Lan, Du, Zhao-Li, Tan, Yue-Qiu, He, Wen-Bin, Wang, Xiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521959/
https://www.ncbi.nlm.nih.gov/pubmed/36960498
http://dx.doi.org/10.4103/aja20233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521959/
https://www.ncbi.nlm.nih.gov/pubmed/36960498
http://dx.doi.org/10.4103/aja20233

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