Article
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.
Italian journal of dermatology and venereology - 1 Feb 2023
Callea Michele, Bellacchio Emanuele, Cammarata Scalisi Francisco, El Feghaly Jinia, El-Ghandour Rabab K, Avendaño Andrea, Yavuz Yasemine, Diociaiuti Andrea, Digilio Maria C, DI Stazio Mariateresa, Novelli Antonio, Oranges Teresa, Filippeschi Cesare, Pisaneschi Elisa, Jilani Houweyda, Gigola Francesca, Willoughby Colin E, Morabito Antonino
Abstract excerpt
BACKGROUND: Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these conditions renders an accurate diagnosis more challenging. The aim of this study is to demonstrate the clinical utility of a targeted resequencing panel through enhancing the molecular and clinical diagnosis of EDs. Given the recent developments...
Topics
- Humans
- Ectodysplasins
- High-Throughput Nucleotide Sequencing
- Ectodermal Dysplasia
- Ectodermal Dysplasia 1, Anhidrotic
- Mutation
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive