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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Lippincott Williams and Wilkins
2022
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| Online Access: | View Fulltext in Publisher |