Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers.

Al-Haggar, Mohammad

Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. [electronic resource] - Journal of clinical pathology Nov 2013 - 1000-4 p. digital

Publication Type: Letter

1472-4146

10.1136/jclinpath-2013-201690 doi


Acro-Osteolysis--genetics
Adult
Amino Acid Substitution
Arginine--genetics
Biopsy
Case-Control Studies
Child
Child, Preschool
Egypt
Female
Heterozygote
Homozygote
Humans
Lamin Type A--genetics
Leucine--genetics
Lipodystrophy--genetics
Male
Mandible--abnormalities
Microscopy, Electron, Transmission
Mothers
Mutation, Missense
Pedigree
Progeria--genetics
Skin--ultrastructure