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

Clin Genet. 2023 Dec 10. doi: 10.1111/cge.14465. Online ahead of print.ABSTRACTThis 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.PMID:38072398 | DOI:10.1111/cge.14465

Source: Clinical Genetics - December 10, 2023 Category: Genetics & Stem Cells Authors: Payal Kamdar Thenral S Geetha Thomas Palocaren Madhavi Kandagaddala Praveen Kumar Chinniah Sakthivel Murugan Ramprasad Vedam Sumita Danda Source Type: research