Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP649500.RAXzbmgCRH0ZO-TggYuckHB_Be016LUNV6JCXRiOojOZI#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 18554282 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.