Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
Shen
J J
JJ
Brown
C A
CA
Lupski
J R
JR
Potocki
L
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive / Q000235:genetics; D005838:Genotype; D006639:Histidine / Q000235:genetics; D006720:Homozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000235:genetics* / Q000473:pathology; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype
D034904:Lamin Type A; C440308:lamin C; D006639:Histidine; D001120:Arginine