Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference3 articles.
1. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance
2. Tokyo campus rising
3. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers
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1. Vici syndrome in Israel: Clinical and molecular insights;Frontiers in Genetics;2022-09-20
2. Novel EPG5 Mutation Associated with Vici Syndrome Gene;Case Reports in Genetics;2022-07-05
3. Infections in primary immunodeficiency;Allergic and Immunologic Diseases;2022
4. Vici syndrome with pathogenic homozygous EPG5 gene mutation;Medicine;2020-10-23
5. Two cases of vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay;The Turkish Journal of Pediatrics;2020
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