9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Nambot, Sophie

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. [electronic resource] - European journal of human genetics : EJHG 06 2016 - 830-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2015.202 doi


Adolescent
Child
Chromosome Deletion
Chromosomes, Human, Pair 9--genetics
Craniofacial Abnormalities--diagnosis
Endoglin--genetics
Epilepsy--diagnosis
Female
Haploinsufficiency
Humans
Intellectual Disability--diagnosis
LIM-Homeodomain Proteins--genetics
Male
Munc18 Proteins--genetics
Phenotype
Syndrome
Transcription Factors--genetics