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A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome
Buschke–Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3 . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshift pathogenic variant in both the affect...
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| Gepubliceerd in: | J Pediatr Genet |
|---|---|
| Hoofdauteurs: | , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Georg Thieme Verlag KG
2020
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| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6976315/ https://ncbi.nlm.nih.gov/pubmed/31976147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1694767 |
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