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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Syeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, Adil u Rehman, Sher Alam Khan, Shamim Saleha, Yar Muhammad Khan, Noor Muhammad, Saadullah Khan, Naveed Wasif
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2024-07-01
Schriftenreihe:BMC Medical Genomics
Schlagworte:
Intellectual disability
Exome sequencing
HCFC1 gene
MN1 gene
Sanger Sequencing
Online-Zugang:https://doi.org/10.1186/s12920-024-01943-2
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