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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Authors
  • And 10 more
Type
Published Article
Journal
BMC Medical Genetics
1471-2350
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Volume
16
Pages
41–41
Identifiers
DOI: 10.1186/s12881-015-0183-0
PMID: 26104215
Source
Medline
License
Unknown

Abstract

We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

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