Mutation in Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Congenital skin disorders are a class of complex genetic diseases that are difficult to diagnose and treat. We developed trio whole-exome sequencing-plus (WES-plus) for detecting mutations and evaluated the use of traditional Chinese medicine (TCM) for treating congenital skin disorders. In this study, we successively performed panel-based next-generation sequencing (NGS) and Trio WES-plus in a child with frequent large blisters.

PTK7 is a molecular marker for metastasis, TNM stage, and prognosis in oral tongue squamous cell carcinoma.

The prognosis of oral tongue squamous cell carcinoma (OTSCC) is poor, and it would be beneficial to identify prognostic markers for optimization of treatment. Protein tyrosine kinase 7 (PTK7) is a receptor tyrosine kinase that is aberrantly expressed in human cancers. No exploration of the role of PTK7 in OTSCC has been reported.