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First Report of Biallelic NPPC Variants Causing Acromesomelic Type of Short Stature

Year: 2026

Type: article

Abstract: C-type natriuretic peptide (CNP) increases chondrocyte maturation and growth of long bones by acting on its receptor NPR-B. Increased activity of CNP and NPR-B has been reported to cause tall stature while decreased activity of NPR-B causes short stature. Monoallelic loss-of-function variants in NPPC, which codes for CNP, have been reported in patients with idiopathic short stature. We report a patient with acromesomelic type of short stature due to biallelic missense variants in NPPC which codes for CNP.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70331

Authors: Deepak Amalnath, Shreya Rajagopal, Chandan Akkadka

Institution: Jawaharlal Institute of Post Graduate Medical Education and Research

Language: English

Topic: Growth Hormone and Insulin-like Growth Factors

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W7222818159

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Cites: 11

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