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ey0017.4-11 | New perspectives | ESPEYB17

4.11. NPR2 Variants are frequent among children with familial short stature and respond well to growth hormone therapy

L Plachy , P Dusatkova , K Maratova , L Petruzelkova , D Zemkova , L Elblova , P Kucerova , L Toni , S Kolouskova , M Snajderova , Z Sumnik , J Lebl , S Pruhova

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

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ey0016.4-3 | Important for Clinical Practice | ESPEYB16

4.3. High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone

L Plachy , V Strakova , L Elblova , B Obermannova , S Kolouskova , M Snajderova , D Zemkova , P Dusatkova , Z Sumnik , J Lebl , S Pruhova

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

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ESPE Yearbook of Paediatric Endocrinology

4.11. NPR2 Variants are frequent among children with familial short stature and respond well to growth hormone therapy

4.3. High prevalence of growth plate gene variants in children with familial short stature treated with growth hormone

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