Three Siblings with Cohen Syndrome and a Novel Vacuolar Protein Sorting 13 Homolog B Mutation

• Ngā kaituhi matua: Naseer Yousuf Mir (Author), Altaf Hussain (Author), Khurshid Ahmad Wani (Author), Sanjeet Singh (Author), Ummar M Bhat (Author)
• Hōputu: Pukapuka
• I whakaputaina: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Background: Cohen syndrome (CS) is caused by an autosomal recessive (AR) mutation of the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. It is characterized by hypotonia, obesity, prominent incisors, and mental retardation. It is diagnosed by the satisfaction of various sys...