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ey0016.6-3 | New Functions of (Old) Genes | ESPEYB16

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

B Croft , T Ohnesorg , J Hewitt , J Bowles , A Quinn , J Tan , V Corbin , E Pelosi , J van den Bergen , R Sreenivasan , I Knarston , G Robevska , DC Vu , J Hutson , V Harley , K Ayers , P Koopman , A Sinclair

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...

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ey0020.3-9 | Advances in Clinical Practice | ESPEYB20

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M Maghnie , O Semler , E Guillen-Navarro , A Selicorni , KE Heath , G Haeusler , L Hagenas , A Merker , A Leiva-Gea , VL Gonzalez , A Raimann , M Rehberg , F Santos-Simarro , DA Ertl , PA Gregersen , R Onesimo , E Landfeldt , J Jarrett , J Quinn , R Rowell , J Pimenta , S Cohen , T Butt , R Shediac , S Mukherjee , K Mohnike

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individuals lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...

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ESPE Yearbook of Paediatric Endocrinology

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

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