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

Momtazmanesh, Sara; Rayzan, Elham; Shahkarami, Sepideh; Rohlfs, Meino; Klein, Christoph; Rezaei, Nima

Momtazmanesh, Sara; Rayzan, Elham; Shahkarami, Sepideh; Rohlfs, Meino; Klein, Christoph; Rezaei, Nima.

Afiliación

Momtazmanesh S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Rayzan E; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Shahkarami S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Rohlfs M; International Hematology/Oncology of Pediatric Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Klein C; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Rezaei N; International Hematology/Oncology of Pediatric Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Tehran, Iran.

BMC Med Genet ; 21(1): 140, 2020 06 30.

Article en En | MEDLINE | ID: mdl-32605629

Asunto(s)

Dedos/anomalías; Discapacidad Intelectual/genética; Microcefalia/genética; Hipotonía Muscular/genética; Mutación/genética; Miopía/genética; Obesidad/genética; Degeneración Retiniana/genética; Proteínas de Transporte Vesicular/genética; Preescolar; Discapacidades del Desarrollo/genética; Femenino; Humanos; Fenotipo

Palabras clave

Cohen syndrome; Frameshift mutation; Neutropenia; VPS13B protein; Vesicular transport proteins

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Degeneración Retiniana / Proteínas de Transporte Vesicular / Dedos / Discapacidad Intelectual / Microcefalia / Hipotonía Muscular / Mutación / Miopía / Obesidad Límite: Child, preschool / Female / Humans Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Reino Unido

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