John A. McGrath

TL;DR: Two children with recessive dystrophic epidermolysis bullosa are reported to have been treated with reduced-toxicity conditioning and HLA-matched HPC transplantation.

TL;DR: It is demonstrated that mutations in the KRT1 and KRT2E genes are deleterious to keratin filament network stability and lead to specific clinical inherited disorders of keratinization.

TL;DR: In this family, whole‐exome sequencing provided accurate subtyping of a form of ARCI in one child and provide an explanation for an undiagnosed developmental disorder in two other children, findings that improve the prospects for diagnostic accuracy and genetic counselling, and demonstrate the impact of next‐generation sequencing technologies on clinical genetics.

TL;DR: Findings expand the repertoire of LAMB3 mutations in junctional epidermolysis bullosa, and emphasize the notion that premature termination codons in both alleles of the laminin 5 genes result in Herlitz junctional Epidermal basement membrane zone.

TL;DR: The data demonstrate the surprising effects inherited desmosome gene/protein pathology may have on hair growth and development and provides several further intriguing new discoveries in years to come.