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ey0018.6-1 | Basic and Genetic Research of DSD | ESPEYB18

6.1. Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

AD Bird , BM Croft , M Harada , L Tang , L Zhao , Z Ming , S Bagheri-Fam , P Koopman , Z Wang , K Akita , VR Harley

Hum Mol Genet. 2020 Aug 3;29(13):21482161. doi: doi:10.1093/hmg/ddaa100. https://www.ncbi.nlm.nih.gov/pubmed/32452519This study explores the hitherto unknown role of FGF9 in human testis development. The authors use two mouse models that phenocopy the skeletal defects of dominant FGF9 mutations that cause skelet...

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ey0020.10-11 | Dyslipidemia | ESPEYB20

10.11. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

M Cuchel , FJ Raal , RA Hegele , K Al-Rasadi , M Arca , M Averna , E Bruckert , T Freiberger , D Gaudet , M Harada-Shiba , LC Hudgins , M Kayikcioglu , L Masana , KG Parhofer , JE Roeters van Lennep , RD Santos , ESG Stroes , GF Watts , A Wiegman , JK Stock , LS Tokgozoğlu , AL Catapano , KK Ray

Brief summary: In May 2023, the European Atherosclerosis Society (EAS) released an update to its 2014 consensus on homozygous familial hypercholesterolemia (HoFH). The 2023 statement provides updated diagnostic criteria, screening recommendations, treatment algorithms, guidance about family planning, and new insights into the genetics of the disease.Comment: Here is a brief summary of the new findings and recommendations of the updated consensus:<p c...

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ESPE Yearbook of Paediatric Endocrinology

6.1. Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes

10.11. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

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