Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?-Reference-Cited by-同舟云学术

Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?

Published:2020-08-26 Issue:9 Volume:41 Page:1697-1699
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Heddar Abdelkader¹²^ORCID,Misrahi Micheline¹²^ORCID

Affiliation:

1. Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction APHP Hôpitaux Universitaires Paris‐Saclay, Hôpital Bicêtre Le Kremlin‐Bicêtre France

2. UMR‐S 1193, INSERM Université Paris Saclay, AP‐HP, Hôpital Paul Brousse Villejuif France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24077

Reference26 articles.

1. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

2. Fanconi anemia and its diagnosis;Auerbach A. D.;Mutation Research/DNA Repair,2009

3. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

4. A homozygous hypomorphic BRCA2 variant causes primary ovarian insufficiency without cancer or Fanconi anemia traits;Caburet S.;bioRxiv,2019

5. Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice;Journal of Medical Genetics;2021-04-22

2. Response to “Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?”;Human Mutation;2020-08-26