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

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

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...

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Bibliographic Details
Main Authors: Naseer Yousuf Mir, Altaf Hussain, Khurshid Ahmad Wani, Sanjeet Singh, Ummar M Bhat
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Pediatrics Case Reports
Subjects:
developmental delay
dysmorphism
hypotonia
microcephaly
retinopathy
Online Access:http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=3;spage=134;epage=138;aulast=Mir

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http://www.ipcares.org/article.asp?issn=2772-5170;year=2022;volume=2;issue=3;spage=134;epage=138;aulast=Mir

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