Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G.
Novelli G, et al. Among authors: lauro r.
Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19.
Am J Hum Genet. 2002.
PMID: 12075506
Free PMC article.