Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia

Mutation of TBC1 Domain containing kinase (TBCK) with associated intellectual disability and hypotonia

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellect...

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Bibliographic Details
Main Authors: Prem Chand, Asna Sulaiman, Salman Kirmani
Format: Article
Language:English
Published: Pakistan Medical Association 2023-09-01
Series:Journal of the Pakistan Medical Association
Subjects:
Infantile hypotonia
Intellectual disability
Gene mutation
Online Access:https://ojs.jpma.org.pk/index.php/public_html/article/view/6733

Internet

https://ojs.jpma.org.pk/index.php/public_html/article/view/6733

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