Understanding What You Have Found: A Family With a Mutation in the Gene With Literature Review
Introduction: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is “Poretti-Boltshauser Syndrome; PTBHS” (OMIM #615960). Homozygous or compound heterozygous mutations in the LAMA...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2020-08-01
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| Series: | Clinical Medicine Insights: Case Reports |
| Online Access: | https://doi.org/10.1177/1179547620948666 |