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Article

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.

American journal of medical genetics. Part A - 1 Aug 2025

Moffatt Pierre, Janelle Chantal, Miranda Valancy, Bardai Ghalib, Rauch Frank

Abstract excerpt

NPR3-related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss-of-function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported. Here we describe three siblings with NPR3-related tall stature who were tall (height z-scores between +2.9...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40171685
DOI: 10.1002/ajmg.a.64080

Genes

NPR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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