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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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ey0019.4-9 | New Perspectives | ESPEYB19

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

L Sentchordi-Montane , S Benito-Sanz , M Aza-Carmona , F Diaz-Gonzalez , S Modamio-Hoybjor , la Torre C De , J Nevado , P Ruiz-Ocana , C Bezanilla-Lopez , P Prieto , P Bahillo-Curieses , A Carcavilla , I Mulero-Collantes , AC Barreda-Bonis , J Cruz-Rojo , J Ramirez-Fernandez , de la Vega JA Bermudez , AM Travess , J Gonzalez de Buitrago Amigo , A Del Pozo , E Vallespin , M Solis , C Goetz , A Campos-Barros , F Santos-Simarro , I Gonzalez-Casado , P Ros-Perez , M Parron-Pajares , KE Heath

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...

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ESPE Yearbook of Paediatric Endocrinology

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

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

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