Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation inERCC6
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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1. Cockayne syndrome in an Iranian pedigree with a homozygous missense variant in the ERCC6 gene;Gene Reports;2022-12
2. Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B;Frontiers in Genetics;2022-02-17
3. Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population;European Journal of Medical Genetics;2020-02
4. Rare variants in FANCA induce premature ovarian insufficiency;Human Genetics;2019-09-18
5. Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death;Medicine;2018-08
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