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Article

The PTRHD1 Mutation in Intellectual Disability.

Archives of Iranian medicine - 1 Oct 2021

Cheraghi Sara, Moghbelinejad Sahar, Najmabadi Hossein, Kahrizi Kimia, Najafipour Reza

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a heterogonous disorder with complex etiology. The frequency of autosomal recessive inheritance defects was elevated in a consanguineous family. METHODS: In this study, high-throughput DNA sequencing was performed in an Iranian consanguineous family with two affected individuals to find potential causative variants. Whole-exome sequencing was carried out on the proband...

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Identifiers

PMID: 34816696
DOI: 10.34172/aim.2021.110

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