title: Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers.
authors.affiliation: Genetics Unit, Pediatrics Department, Faculty of Medicine, Mansoura University, , Mansoura, Egypt.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Al-Haggar
authors.forename: Amany
authors.initials: A
authors.lastname: Shams
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madej-Pilarczyk
authors.forename: Tarik
authors.initials: T
authors.lastname: Barakat
authors.forename: Monika
authors.initials: M
authors.lastname: Puzianowska-Kuznicka
mesh_terms: D030981:Acro-Osteolysis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D001706:Biopsy; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D007930:Leucine / Q000235:genetics; D008060:Lipodystrophy / Q000235:genetics* / Q000473:pathology; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000473:pathology; D046529:Microscopy, Electron, Transmission; D009035:Mothers; D020125:Mutation, Missense; D010375:Pedigree; D011371:Progeria / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000648:ultrastructure*
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D001120:Arginine; D007930:Leucine
keywords: Histopathology; Keratin; Molecular Genetics