ArticleJournal of the Endocrine Society2022
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Article in Journal of the Endocrine Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Natriuretic peptide receptor C in cardiovascular-kidney-liver-metabolic syndrome: from natriuretic peptide deficiency to direct tissue signaling?Reviews in endocrine & metabolic disorders · 2026Review
- Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.American journal of human genetics · 2026Article
- C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.Pediatric reports · 2025Article
- Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.Endocrine connections · 2022Review
- CNP-related Short and Tall Stature: A Close-knit Family of Growth Disorders.Journal of the Endocrine Society · 2022Review
- Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.Journal of the Endocrine Society · 2022Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextNatriuretic peptide receptor-C (NPR-C, encoded by
objectiveHere we report on a boy with 2 novel biallelic inactivating variants of
methodsHistory and clinical characteristics were collected. Biochemical indices of natriuretic peptide clearance and in vitro cellular localization of NPR-C were studied to investigate causality of the identified variants.
resultsWe identified 2 novel compound heterozygous
conclusionWith this report on a boy with tall stature and macrodactyly of the halluces we further broaden the genotypic and phenotypic spectrum of NPR-C-related tall stature.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.