Ontology highlight
ABSTRACT:
SUBMITTER: Tootleman E
PROVIDER: S-EPMC6549550 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Tootleman Eva E Malamut Barbara B Akshoomoff Natacha N Mattson Sarah N SN Hoffman Hal M HM Jones Marilyn C MC Printz Beth B Shiryaev Sergey A SA Grossfeld Paul P
Cold Spring Harbor molecular case studies 20190603 3
Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including autism and attention deficit hyperactivity disorder, congenital heart defects, structural kidney defects, genitourinary problems, immunodeficiency, and a bleeding disorder due to impaired platelet production and function. Previous studies combining bo ...[more]