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ey0018.7-3 | Clinical Guidance | ESPEYB18

7.3. Phase 3 trial of a small-volume subcutaneous 6-month duration leuprolide acetate treatment for central precocious puberty

KO Klein , A Freire , MG Gryngarten , GB Kletter , M Benson , BS Miller , TS Dajani , EA Eugster , N Mauras

J Clin Endocrinol Metab. 2020 Oct 1;105(10):e366071. 10.1210/clinem/dgaa479. https://academic.oup.com/jcem/article/105/10/e3660/5879679In brief: This phase 3 multi-centre, open-label, single-arm study explores the efficacy, pharmacokinetics and safety of 6-monthly 45-mg subcutaneous leuprolide acetate in 59 pati...

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ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

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ESPE Yearbook of Paediatric Endocrinology

7.3. Phase 3 trial of a small-volume subcutaneous 6-month duration leuprolide acetate treatment for central precocious puberty

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

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