title: Molecular diagnosis of genodermatoses.
abstract: The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism. Molecular methods of two genodermatoses are explained in detail, i.e. genodermatoses with skin fragility and neurofibromatosis type 1.
authors: Molecular Genetics Laboratory, The Institute of Dermatology, Bangkok, Thailand. vesarat@hotmail.com
authors: Vesarat
authors: V
authors: Wessagowit
mesh_terms: D000818:Animals; D004252:DNA Mutational Analysis / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009030:Mosaicism; D009154:Mutation; D012867:Skin / Q000378:metabolism / Q000473:pathology*; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology