John A. McGrath

TL;DR: Mutation evaluation in a European cohort of 14 families with the lethal, Herlitz type of JEB revealed recurrence of a particular C-->T substitution at nucleotide position 1903 of LAMB3, resulting in the mutation R635X, which will facilitate screening of additional JEB patients for the purpose of prenatal testing of fetuses at risk for recurrence.

TL;DR: J.A.M. is currently receiving a research fellowship from the Dystrophic Epidermolysis Bullosa Research Association (DEBRA).

TL;DR: These data refine genotype-phenotype correlation for recessive forms of ichthyosis in England, demonstrating the spectrum of disease features and co-morbidities, as well as the gene pathologies therein.

TL;DR: It is concluded that PLEC1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes, even in the absence of prominent skin involvement.

TL;DR: Investigation of PORCN gene pathology and pattern of X‐chromosome inactivation analysis in two unrelated Caucasian female patients who presented with multiple developmental abnormalities consistent with FDH found a random pattern in one case but was uninformative in the other.