RT Journal Article SR Electronic T1 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 854 OP 857 DO 10.1136/jmg.40.11.854 VO 40 IS 11 A1 J J Shen A1 C A Brown A1 J R Lupski A1 L Potocki YR 2003 UL http://jmg.bmj.com/content/40/11/854.abstract AB