Novel LAT Pathogenic Variants in a POI Family and Its Role in the Ovary
Premature ovarian insufficiency (POI) affects about 1% of women under 40 years and leads most often to definitive infertility with adverse health outcomes. Genetic factor has been reported to play an important role in POI. However, the genetic etiology remains unknown in the majority of the POI pati...
Guardado en:
Autores principales: | Kun Chu, Yi He, Ziyuan Li, Zhongxin Jiang, Liang Wang, Yixuan Ji, Xiang Wang, Wenjuan Pang, Ningxia Sun, Fu Yang, Wen Li |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/2d26211a21e24d07af5c7aac3f5918ec |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
por: Jingjing Xiang, et al.
Publicado: (2021) -
A Long Contiguous Stretch of Homozygosity Disclosed a Novel <i>STAG3</i> Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature
por: Simona Mellone, et al.
Publicado: (2021) -
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
por: Elena V. Filatova, et al.
Publicado: (2021) -
Genetic Variation and the Distribution of Variant Types in the Horse
por: S. A. Durward-Akhurst, et al.
Publicado: (2021) -
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
por: Caitlin T. Fierheller, et al.
Publicado: (2021)