Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion type Assertion NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_head.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion description "[Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a characteristic curving of the radius, known as the Madelung deformity. SHOX mutations resulting in SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS), whereas homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia (LMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_provenance.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion evidence source_evidence_literature NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_provenance.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion SIO_000772 16175500 NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_provenance.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion wasDerivedFrom befree-2016 NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_provenance.
- NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_assertion wasGeneratedBy ECO_0000203 NP514454.RAk2zmqll3siHAXZS64gY_vxWEdwjmgCsoalzJYk3jhG4130_provenance.