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...

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Detalles Bibliográficos
Autores principales: Momtazmanesh, Sara, Rayzan, Elham, Shahkarami, Sepideh, Rohlfs, Meino, Klein, Christoph, Rezaei, Nima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
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

Internet

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

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