Vici syndrome in Israel: Clinical and molecular insights

Vici syndrome in Israel: Clinical and molecular insights

Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral catara...

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Main Authors: Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Hanna Mandel, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Uriel Katz, Ortal Barel, Nasrin Hamed, Bruria Ben-Zeev, Shoshana Greenberger, Nadra Nasser Samra, Michal Stern Zimmer, Annick Raas-Rothschild, Ben Pode-Shakked
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
EPG5
Vici syndrome
congenital cataract
agenesis of corpus callosum
global developmental delay
cardiomyopathy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.991721/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.991721/full

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