A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies

Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by...

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Detalles Bibliográficos
Autores principales: Dehghan, Roghayeh, Behnam, Mahdiyeh, Moafi, Alireza, Salehi, Mansoor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8413065/
https://www.ncbi.nlm.nih.gov/pubmed/34484844
http://dx.doi.org/10.1155/2021/3143609

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8413065/
https://www.ncbi.nlm.nih.gov/pubmed/34484844
http://dx.doi.org/10.1155/2021/3143609

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