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ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 19 cases per 100,000 live-births. GD can be classified as either complete...

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ey0020.3-8 | Advances in Clinical Practice | ESPEYB20

3.8. Nosology of genetic skeletal disorders: 2023 revision

S Unger , CR Ferreira , GR Mortier , H Ali , DR Bertola , A Calder , DH Cohn , V Cormier-Daire , KM Girisha , C Hall , D Krakow , O Makitie , S Mundlos , G Nishimura , SP Robertson , R Savarirayan , D Sillence , M Simon , VR Sutton , ML Warman , A Superti-Furga

In Brief: The 11th edition of the Nosology is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

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ESPE Yearbook of Paediatric Endocrinology

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

3.8. Nosology of genetic skeletal disorders: 2023 revision

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