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Article

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

The journal of gene medicine - 1 Jan 2021

Khan Muhammad Ismail, Latif Muhammad, Saif Maria, Ahmad Hilal, Khan Atta Ullah, Naseer Muhammad Imran, Hussain Hafiz Muhammad Jafar, Jelani Musharraf

Abstract excerpt

BACKGROUND: Joubert syndrome (JBTS) is a heterogenous disorder characterized by intellectual disability, developmental delays, molar tooth sign in brain imaging, hypotonia, ocular motor apraxia and overlapping features of ciliopathies. There are 36 clinical subtypes of JBTS, with an equal number of genes known so far for this phenotype. METHODS: Whole exome sequencing (WES) and Sanger sequencing were performed...

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PMID: 32989887
DOI: 10.1002/jgm.3279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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