| Giordana Campo Braga, Carla Josene Zarabia, Adriana Kelly Soares de S da Trindade, Carolina Sales Vieir. Menstrual management using the etonogestrel implant in individuals with intellectual disabilities in Joinville, Brazil. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. 2024-10-01. PMID:39350685. |
this study aimed to describe the use of etonogestrel (eng) implants for menstrual management (i.e., management of bleeding and symptoms associated with menstruation) in individuals with intellectual disabilities. |
2024-10-01 |
2024-10-03 |
Not clear |
| Sophie Nambot, Alice Masurel, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Christel Thauvin-Robinet, Mathilde Lefebvre, Nathalie Marle, Julien Thevenon, Stéphanie Perez-Martin, Véronique Dulieu, Frédéric Huet, Ghislaine Plessis, Joris Andrieux, Pierre-Simon Jouk, Gipsy Billy-Lopez, Charles Coutton, Fanny Morice-Picard, Marie-Ange Delrue, Delphine Heron, Caroline Rooryck, Alice Goldenberg, Pascale Saugier-Veber, Géraldine Joly-Hélas, Patricia Calenda, Paul Kuentz, Sylvie Manouvrier-Hanu, Sophie Dupuis-Girod, Patrick Callier, Laurence Faivr. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. European journal of human genetics : EJHG. vol 24. issue 6. 2017-07-26. PMID:26395556. |
the patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of stxbp1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to lmx1b deletion, epistaxis and cutaneous-mucous telangiectasias explained by eng haploinsufficiency and common facial dysmorphism. |
2017-07-26 |
2023-08-13 |
Not clear |