EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
Author:
Affiliation:
1. 1st Department of Pediatrics Semmelweis University Budapest Hungary
2. MTA‐SE Lendulet Nephrogenetic Laboratory Budapest Hungary
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12337
Reference32 articles.
1. Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus
2. Vici syndrome associated with unilateral lung hypoplasia and myopathy
3. A Saudi Infant with Vici Syndrome: Case Report and Literature Review
4. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
5. Reply: Aberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome
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1. Vici syndrome in Israel: Clinical and molecular insights;Frontiers in Genetics;2022-09-20
2. The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5;International Journal of Developmental Neuroscience;2021-09-02
3. Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate;Ophthalmic Genetics;2021-07-15
4. Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes;Molecular Genetics & Genomic Medicine;2021-03-14
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