title: Next-generation diagnostics for inherited skin disorders.
abstract: Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.
authors.affiliation: St John's Institute of Dermatology, King's College London, Guy's Campus, London, UK.
authors.forename: Joey E
authors.initials: JE
authors.lastname: Lai-Cheong
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D016115:Albinism, Oculocutaneous / Q000150:complications* / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009503:Neutropenia / Q000150:complications* / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human