Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
Abstract Background Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutati...
Saved in:
Main Authors: | Syeda Iqra Hussain (Author), Nazif Muhammad (Author), Shahbaz Ali Shah (Author), Adil u Rehman (Author), Sher Alam Khan (Author), Shamim Saleha (Author), Yar Muhammad Khan (Author), Noor Muhammad (Author), Saadullah Khan (Author), Naveed Wasif (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2024-07-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family
by: Sher Alam Khan, et al.
Published: (2020) -
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
by: Anwar Kamal Khan, et al.
Published: (2017) -
Exposure Assessment for Toxic Hepatitis Caused by HCFC-123
by: Ki-Woong Kim, et al.
Published: (2018) -
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa
by: Fozia Fozia, et al.
Published: (2021) -
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (<it>CDMP1</it>) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
by: Ansar Muhammad, et al.
Published: (2008)