Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

Intellectual disability (ID) has become very common and is an extremely heterogeneous disorder, where the patients face many challenges with deficits in intellectual functioning and adaptive behaviors. A single affected family revealed severe disease phenotypes such as ID, developmental delay, dysmo...

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Detalles Bibliográficos
Autores principales: Waqas, Ahmed, Nayab, Anam, Shaheen, Shabnam, Abbas, Safdar, Latif, Muhammad, Rafeeq, Misbahuddin M., Al-Dhuayan, Ibtesam S., Alqosaibi, Amany I., Alnamshan, Mashael M., Sain, Ziaullah M., Habib, Alaa Hamed, Alam, Qamre, Umair, Muhammad, Saqib, Muhammad Arif Nadeem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096442/
https://www.ncbi.nlm.nih.gov/pubmed/35571055
http://dx.doi.org/10.3389/fgene.2022.878274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096442/
https://www.ncbi.nlm.nih.gov/pubmed/35571055
http://dx.doi.org/10.3389/fgene.2022.878274

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