Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subject...

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Detalles Bibliográficos
Autores principales: Asif, Maria, Anayat, Maryam, Tariq, Faiza, Noureen, Tanzeela, Din, Ghulam Naseer Ud, Becker, Christian, Becker, Kerstin, Thiele, Holger, Makhdoom, Ehtisham ul Haq, Shaiq, Pakeeza Arzoo, Baig, Shahid M., Nürnberg, Peter, Hussain, Muhammad Sajid, Raja, Ghazala Kaukab, Abdullah, Uzma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858807/
https://www.ncbi.nlm.nih.gov/pubmed/36672789
http://dx.doi.org/10.3390/genes14010048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858807/
https://www.ncbi.nlm.nih.gov/pubmed/36672789
http://dx.doi.org/10.3390/genes14010048

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