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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
OBJECTIVE: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a...
Shranjeno v:
| izdano v: | Neurology |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Lippincott Williams & Wilkins
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6105048/ https://ncbi.nlm.nih.gov/pubmed/29980640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000005958 |
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