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Article

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Journal of medical genetics - 1 Jan 2022

Díaz-González Francisca, Wadhwa Saruchi, Rodriguez-Zabala Maria, Kumar Somesh, Aza-Carmona Miriam, Sentchordi-Montané Lucia, Alonso Milagros, Ahmad Istaq, Zahra Sana, Kumar Deepak, Kushwah Neetu, Shamim Uzma, Sait Haseena, Kapoor Seema, Roldán Belen, Nishimura Gen, Offiah Amaka C, Faruq Mohammed, Heath Karen E

Abstract excerpt

BACKGROUND: C-type natriuretic peptide (CNP), its endogenous receptor, natriuretic peptide receptor-B (NPR-B), as well as its downstream mediator, cyclic guanosine monophosphate (cGMP) dependent protein kinase II (cGKII), have been shown to play a pivotal role in chondrogenic differentiation and endochondral bone growth. In humans, biallelic variants in NPR2, encoding NPR-B, cause acromesomelic dysplasia, type...

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PMID: 33106379
DOI: 10.1136/jmedgenet-2020-107177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.PMID 33106379Read ↗

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