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...
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| Үндсэн зохиолчид: | , , |
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| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
SAGE Publishing
2020-08-01
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| Цуврал: | Clinical Medicine Insights: Case Reports |
| Онлайн хандалт: | https://doi.org/10.1177/1179547620948666 |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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