A novel deletion mutation in the <it>TUSC3 </it>gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
<p>Abstract</p> <p>Background</p> <p>Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes f...
Main Authors: | Ali Nadir, Noor Abdul, Rafiq Muhammad, Khan Muzammil, Ali Ghazanfar, Vincent John B, Ansar Muhammad |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2011-04-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/12/56 |
Similar Items
-
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
by: Muhammad Ilyas, et al.
Published: (2020-03-01) -
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
by: Seyyedha Abbas, et al.
Published: (2014-07-01) -
Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
by: Xiaodong Jiao, et al.
Published: (2019-01-01) -
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
by: Babylakshmi Muthusamy, et al.
Published: (2020-05-01) -
Mutations in <it>WDR62 </it>gene in Pakistani families with autosomal recessive primary microcephaly
by: Mir Asif, et al.
Published: (2011-10-01)