A Novel Variant in VPS13B Underlying Cohen Syndrome

Pathogenic variants in vacuolar protein sorting 13 homolog B (VPS13B) cause Cohen syndrome (CS), a clinically diverse neurodevelopmental disorder. We used whole exome and Sanger sequencing to identify disease-causing variants in a Pakistani family with intellectual disability, microcephaly, facial d...

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Detalles Bibliográficos
Autores principales: Hussain, Abrar, Acharya, Anushree, Bharadwaj, Thashi, Genomics, University Of Washington Center For Mendelian, Leal, Suzanne M., Khaliq, Abdul, Mir, Asif, Schrauwen, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115529/
https://www.ncbi.nlm.nih.gov/pubmed/37090188
http://dx.doi.org/10.1155/2023/9993801

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115529/
https://www.ncbi.nlm.nih.gov/pubmed/37090188
http://dx.doi.org/10.1155/2023/9993801

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