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A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is a recently described very rare autosomal recessive neurodevelopmental disorder. This disease was first described in 2015 in several families from the Ashkenazi Jewish ancestry with a founder mutation in SLC1A4 (p.E256K) as th...
Shranjeno v:
| izdano v: | Child Neurol Open |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
SAGE Publications
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6852354/ https://ncbi.nlm.nih.gov/pubmed/31763347 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X19880647 |
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