المؤلفون: Bertrand Isidor, Claudine Le Vaillant, Laurence Faivre, Anna Pelet, Nathalie Ronce, Tiphaine Lefebvre, Martine Raynaud, Annick Toutain, Alain Verloes, Cédric Le Caignec, Guntram Borck, Madeleine Joubert, Frédéric Jossic, Albert David, Jeanne Amiel, Gaëlle Caillaud, Norbert Winer

المصدر: American Journal of Medical Genetics Part A. 164:1821-1825

مصطلحات موضوعية: Male, Developmental Disabilities, Disease, Blepharophimosis, Biology, medicine.disease_cause, MED12, Prenatal Diagnosis, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Hirschsprung Disease, Hypertelorism, Gene, Genetic Association Studies, Genetics (clinical), Mutation, Mediator Complex, Siblings, Infant, Newborn, Syndrome, Humerus, medicine.disease, Phenotype, Aborted Fetus, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f1d67a17a5f140cb3eb03fb1306463
https://doi.org/10.1002/ajmg.a.36539