Biallelic ATOH1 Gene Variant in Siblings with Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

Biallelic ATOH1 Gene Variant in Siblings with Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss

Background and ObjectivesTo report on the novel association of biallelic variant in atonal basic helix-loop-helix transcription factor 1 (ATOH1) gene and pontocerebellar hypoplasia (PCH), severe global developmental delay, intellectual disability, and hearing loss in a family with 2 affected sibling...

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Bibliographic Details
Main Authors:	Bergant, G. (Author), Fogolari, F. (Author), Jaklič, H. (Author), Maloku, O. (Author), Maver, A. (Author), Neubauer, D. (Author), Pečarič Meglič, N. (Author), Peterlin, B. (Author), Višnjar, T. (Author), Writzl, K. (Author)
Format:	Article
Language:	English
Published:	Lippincott Williams and Wilkins 2022
Online Access:	View Fulltext in Publisher

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