Ontology highlight
ABSTRACT:
SUBMITTER: Ganjavi H
PROVIDER: S-EPMC4244445 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
BMJ case reports 20141112
Feingold syndrome (FGLDS1) is an autosomal dominant disorder caused by mutations in the MYCN oncogene on the short arm of chromosome 2 (2p24.1). It is characterised by microcephaly, digital abnormalities, oesophageal and duodenal atresias, and often learning disability or mental retardation. In 2011, individuals sharing the skeletal abnormalities of FGLDS1 but lacking mutations in MYCN, were found to harbour hemizygous deletions of the MIR17HG gene on chromosome 13q31.3. These individuals share ...[more]