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Article

Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

Clinical genetics - 1 Apr 2024

Kamdar Payal, Geetha Thenral S, Palocaren Thomas, Kandagaddala Madhavi, Chinniah Praveen Kumar, Murugan Sakthivel, Vedam Ramprasad, Danda Sumita

Abstract excerpt

This graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.

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PMID: 38072398
DOI: 10.1111/cge.14465

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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