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ey0015.4-10 | New perspectives | ESPEYB15

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

NN Hauer , H Sticht , S Boppudi , C Büttner , C Kraus , U Trautmann , M Zenker , C Zweier , A Wiesener , RA Jamra , D Wieczorek , J Kelkel , AM Jung , S Uebe , AB Ekici , T Rohrer , A Reis , HG Dörr , CT. Thiel

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

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ey0015.8-1 | Mechanism of the Year | ESPEYB15

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

UI Scholl , G Stölting , J Schewe , A Thiel , H Tan , C Nelson-Williams , AA Vichot , SC Jin , E Loring , V Untiet , T Yoo , J Choi , S Xu , A Wu , M Kirchner , P Mertins , LC Rump , AM Onder , C Gamble , D McKenney , RW Lash , DP Jones , G Chune , P Gagliardi , M Choi , R Gordon , M Stowasser , C Fahlke , RP Lifton

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...

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ESPE Yearbook of Paediatric Endocrinology

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

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