A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature

Abstract 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...

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Bibliographic Details
Main Authors: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein, Nima Rezaei
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Medical Genetics
Subjects:
Cohen syndrome
Neutropenia
Frameshift mutation
Vesicular transport proteins
VPS13B protein
Online Access:http://link.springer.com/article/10.1186/s12881-020-01075-1

Internet

http://link.springer.com/article/10.1186/s12881-020-01075-1

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