Pontocerebellar Hypoplasia Type 3 With Two Novel PCLO Gene Mutations: A Case Report
Pontocerebellar hypoplasia Type III (PCH3) is a rare, autosomal recessive neurodegenerative disorder linked to mutations in the PCLO gene, previously reported only in Omani populations. It presents with progressive microcephaly, intractable epilepsy, optic atrophy, and severe developmental delay. He...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/crpe/1955363 |
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