Cargando…
Homozygous variants in SYCP2L cause premature ovarian insufficiency
BACKGROUND: The genetic causes of the majority of cases of female infertility caused by premature ovarian insufficiency (POI) are unknown. OBJECTIVE: To identify the genetic causes of POI in 110 patients. METHODS: Whole-exome sequencing was performed on 110 patients with POI, and putative disease-ca...
Autores principales: | He, Wen-Bin, Tan, Chen, Zhang, Ya-Xin, Meng, Lan-Lan, Gong, Fei, Lu, Guang-Xiu, Lin, Ge, Du, Juan, Tan, Yue-Qiu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907585/ https://www.ncbi.nlm.nih.gov/pubmed/32303603 http://dx.doi.org/10.1136/jmedgenet-2019-106789 |
Ejemplares similares
-
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
por: Bertoli-Avella, Aida, et al.
Publicado: (2022) -
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
por: Fatemi, Nayeralsadat, et al.
Publicado: (2021) -
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
por: Beyltjens, Tessi, et al.
Publicado: (2023) -
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
por: Falb, Ruth J, et al.
Publicado: (2023) -
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome
por: Knapp, Karen M, et al.
Publicado: (2020)