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To read the full abstract: J Clin Endocrinol Metab. 2018 Jan 1;103(1):228-234[Comments on 7.5 and 7.6] Remarkably, the timing of puberty shows important differences between individuals1. Based on twin studies, differences in pubertal timing are considered to depend on genetic factors which account for up to 60-70% of the varianc...

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ey0015.6-15 | When should an extensive genetic investigation be performed? | ESPEYB15

6.15 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

MF Portnoi , MC Dumargne , S Rojo , SF Witchel , AJ Duncan , C Eozenou , J Bignon-Topalovic , SA Yatsenko , A Rajkovic , M Reyes-Mugica , K Almstrup , L Fusee , Y Srivastava , S Chantot-Bastaraud , C Hyon , C Louis-Sylvestre , P Validire , C de Malleray Pichard , C Ravel , S Christin-Maitre , R Brauner , R Rossetti , L Persani , EH Charreau , L Dain , VA Chiauzzi , I Mazen , H Rouba , C Schluth-Bolard , S MacGowan , WHI McLean , E Patin , E Rajpert-De Meyts , R Jauch , JC Achermann , JP Siffroi , K McElreavey , A Bashamboo

To read the full abstract: Hum Mol Genet. 2018 Apr 1;27(7):1228-1240See comment on 6.16...

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ESPE Yearbook of Paediatric Endocrinology

7.6 Differential Impact of Genetic Loci on Age at Thelarche and Menarche in Healthy Girls

6.15 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

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