First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS1...

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Detalles Bibliográficos
Autores principales: Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693559/
https://www.ncbi.nlm.nih.gov/pubmed/29149870
http://dx.doi.org/10.1186/s12881-017-0493-5

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