Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal re...

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Detalles Bibliográficos
Autores principales: Khan, Amjad, Miao, Zhichao, Umair, Muhammad, Ullah, Amir, Alshabeeb, Mohammad A., Bilal, Muhammad, Ahmad, Farooq, Rappold, Gudrun A., Ansar, Muhammad, Carapito, Raphael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563614/
https://www.ncbi.nlm.nih.gov/pubmed/32878022
http://dx.doi.org/10.3390/genes11091021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563614/
https://www.ncbi.nlm.nih.gov/pubmed/32878022
http://dx.doi.org/10.3390/genes11091021

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