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ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

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ey0019.5-1 | Novel treatments for rare skeletal disorders | ESPEYB19

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

IW Song , SC Nagamani , D Nguyen , I Grafe , VR Sutton , FH Gannon , E Munivez , MM Jiang , A Tran , M Wallace , P Esposito , S Musaad , E Strudthoff , S McGuire , M Thornton , V Shenava , S Rosenfeld , S Huang , R Shypailo , E Orwoll , B Lee

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...

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ESPE Yearbook of Paediatric Endocrinology

4.11. Genetic architecture associated with familial short stature

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

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