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A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
BACKGROUND: Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, neutropenia and a friendly character. It is assoc...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325105/ https://www.ncbi.nlm.nih.gov/pubmed/32605629 http://dx.doi.org/10.1186/s12881-020-01075-1 |