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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Med Insights Case Rep |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
SAGE Publications
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7440728/ https://ncbi.nlm.nih.gov/pubmed/32884387 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1179547620948666 |
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