Celia Moss

TL;DR: A consensus statement on the current guidelines for diagnosis and management of neurofibromatosis 1 is produced, based on published clinical studies and on the pooled knowledge of experts with experience of providing multidisciplinary clinical and molecular services for NF1 patients.

TL;DR: A new X-linked recessive immunodeficiency syndrome is defined, distinct from other types of HED and immunODeficiency syndromes, and the data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factors receptor-like signaling pathway, with the IKK signalsome complex playing a significant role.

TL;DR: Sequencing of the ABCA12 gene revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI, which paves the way for early prenatal diagnosis and leads to a better understanding of epidermal differentiation and barrier formation.

TL;DR: PDL treatment in uncomplicated haemangiomas is no better than a wait-and-see policy, and the only objective measure of resolution that improved with PDL treatment was haemagioma redness.

TL;DR: Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis, and homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4) in eight affected families were identified.