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Understanding What You Have Found: A Family With a Mutation in the LAMA1 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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7440728/ https://www.ncbi.nlm.nih.gov/pubmed/32884387 http://dx.doi.org/10.1177/1179547620948666 |