9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping - Nambot, Sophie; Masurel, Alice; El Chehadeh, Salima; Mosca-Boidron, Anne-Laure; Thauvin-Robinet, Christel; Lefebvre, Mathilde; Marle, Nathalie; Thevenon, Julien; Perez-Martin, Stéphanie; Dulieu, Véronique; Huet, Frédéric; Plessis, Ghislaine; et al. (European journal of human genetics : EJHG, 2016)
Keywords: Acetylcholine receptors; Adolescent; Bone dysplasia; Child; Chromosome 9; Chromosome Deletion; Chromosomes, Human, Pair 9 - genetics; Clonal deletion; Collaboration; Consortia; Craniofacial Abnormalities - diagnosis; Craniofacial Abnormalities - genetics; Dysplasia; Endoglin - genetics; Epilepsy; Epilepsy - diagnosis; Epilepsy - genetics; Female; Genes; Haploinsufficiency; Human health and pathology; Humans; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Life Sciences; LIM-Homeodomain Proteins - genetics; Male; Munc18 Proteins - genetics; Mutation; Patients; Pediatrics; Phenotype; Phenotyping; Respiratory distress syndrome; Syndrome; Transcription Factors - genetics; France; west-syndrome; disease; cerebral hypomyelination; deletions; infantile epileptic encephalopathy; nail-patella syndrome; de-novo mutations; association; developmental delay; intellectual disability