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

CONCLUSION: In conclusion, variants in genes related to the growth plate have a potential role as genetic modifiers of the phenotype in individuals with SHOX deficiency. In individuals with SHOX alterations restricted to the regulatory region, a second alteration could be critical to determine the penetrance and expression of the phenotype.PMID:37695807 | DOI:10.1093/ejendo/lvad128

Source: European Journal of Endocrinology - September 11, 2023 Category: Endocrinology Authors: Naiara C B Dantas Mariana F A Funari Antonio M Ler ário Nathalia L M Andrade Ra íssa C Rezende Laurana P Cellin Cr ésio Alves Lindiane G Crisostomo Ivo J P Arnhold Berenice Mendonca Renata C Scalco Alexander A L Jorge Source Type: research