Article
Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Jan 2020
Kumar Anil, Jain Vandana, Chowdhury Madhumita Roy, Kumar Manoj, Kaur Punit, Kabra Madhulika
Abstract excerpt
Background Our objective was to estimate the prevalence of pathogenic/likely pathogenic variants in the SHOX, GHR, and IGFALS genes among Indian children with idiopathic short stature (ISS), and assess the genotype-phenotype correlation. Methods We recruited 61 children with short stature, who were born appropriate for gestational age, had no obvious dysmorphism or disproportion, and in whom step-wise...
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