Molecular Diagnosis of Genodermatoses (en translation)

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.

ปีที่ตีพิมพ์ : 2556 ปีที่ : 961 ฉบับที่ : - หน้าที่ : 33-96 ประเภท: guideline

Journal : Methods Mol Biol

Keyword : Mutation analysis, Epidermolysis bullosa, Neurofibromatosis, Mosaicism, Mutation, 2013