Novel NPR2 heterozygous variant in a familial short stature and the therapeutic response to rhGH: a case report.

Heterozygous variants in the NPR2 gene have been identified in 2-6 % of idiopathic short stature cases.

CASE PRESENTATION: A total of 18 subjects among the family exhibited short stature.

All the family members with NPR2 gene mutation demonstrated marked short stature, except for four subjects.

Our study confirms NPR2 variants as a cause of familial short stature (familial short stature), with variability in phenotypes, clinical features, and rhGH response, even within families.