QR Kod

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...

Ful tanımlama

Kaydedildi:
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMC 2024-07-01
Seri Bilgileri:BMC Medical Genomics
Konular:
Intellectual disability
Exome sequencing
HCFC1 gene
MN1 gene
Sanger Sequencing
Online Erişim:https://doi.org/10.1186/s12920-024-01943-2
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller