Phenotypic variability in two siblings with Poretti-Boltshauser syndrome
Introduction: Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor development, intellectual disability, and vision abnormalities. PBS is caused by mutati...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2025-03-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2699940424000109 |
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