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Article

Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.

European journal of endocrinology - 1 Sept 2023

Dantas Naiara C B, Funari Mariana F A, Lerário Antonio M, Andrade Nathalia L M, Rezende Raíssa C, Cellin Laurana P, Alves Crésio, Crisostomo Lindiane G, Arnhold Ivo J P, Mendonca Berenice, Scalco Renata C, Jorge Alexander A L

Abstract excerpt

OBJECTIVE: Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature. DESIGN AND METHODS: We performed a genetic analysis in 98 individuals from 48 families with SHOX deficiency with a target panel designed to capture the entire SHOX genomic region and 114...

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PMID: 37695807
DOI: 10.1093/ejendo/lvad128

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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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