Condition: Mandibuloacral dysostosis
rs57520892 in
LMNA gene and
Mandibuloacral dysostosis
PMID 12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
PMID 15998779 2005 A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
PMID 16278265 2006 A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.