Search results for "Hypomelanosis of Ito"

showing 2 items of 2 documents

Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age.

2012

Hypomelanosis of Ito developmental agemultisystem neurocutaneous disorder.Settore MED/39 - Neuropsichiatria Infantile
researchProduct

Genomic characterization of mosaic cutaneous pigmentary disorders

2019

Ntroduction: Mosaic cutaneous dyschromia is strongly evocative of an underlying genetic mosaicism. These post-zygotic events are challenging for conventional diagnostic tools. Thus, genetic basis of mosaic cutaneous dyschromia still remained poorly understood. Materials and Methods: The M.U.S.T.A.R.D. cohort gathers DNA from skin biopsies of patients with mosaic cutaneous dyschromia. After a specialised phenotype analysis, they are referred to either trio exome sequencing (ES) at 200X, or targeted ultra-deep sequencing (60,000X) of candidate genes. Data are analysed with a tailored pipeline, allowing detection of both low-rate nucleotidic variations or chromosomal events. Results: From 2013…

[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologySéquençage haut débitNext generation sequencingMosaïqueCutaneous pigmentationHypomelanosis of ItoPigmentation cutanéeMosaic[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyHypomélanose d'Ito
researchProduct