A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability-Reference-Cited by-同舟云学术

A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability

Published:2021-11-09 Issue:2 Volume:101 Page:242-246
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Heddar Abdelkader¹²,Guichoux Nathalie³,Auger Nathalie⁴,Misrahi Micheline¹²^ORCID

Affiliation:

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

2. UMR‐S 1193, INSERM, Université Paris Saclay, Faculté de Médecine, Hôpital Paul Brousse Villejuif France

3. Service de Pédiatrie et des Urgences Pédiatriques, Hôpital Ambroise‐Paré, Hôpitaux Universitaires Paris‐Saclay Boulogne‐Billancourt France

4. Département de Biologie et de Pathologie Institut Gustave Roussy Villejuif France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14080

Reference12 articles.

1. Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

2. A homozygous FANCM mutation underlies a familial case of non‐syndromic primary ovarian insufficiency;Fouquet B;Elife,2017

3. Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait;Caburet S;J Med Genet,2020

4. A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation

5. The sister chromatid exchange (SCE) assay;Stults DM;Methods Mol Biol,2020

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