Dian Donnai

TL;DR: The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied and there are marked inter-family differences in disease severity and tumour susceptibility.

TL;DR: The molecular spectrum of BMPR2 mutations in 47 additional families with PPH and in three patients with sporadic PPH support the suggestion that haploinsufficiency represents the common molecular mechanism in PPH, and illustrate the considerable heterogeneity of BM PR2 mutations that cause PPH.

TL;DR: CHD7 mutations account for the majority of the cases with CHARGE syndrome, with a broad clinical variability and without an obvious genotype-phenotype correlation.

TL;DR: In this article, a clinical and genetic study of type 2 neurofibromatosis (NF2) has been carried out in the United Kingdom and the results show that there are two types of NF2, one with later onset and bilateral vestibular schwannomas as the only usual feature and the other with earlier onset and multiple other tumours.

TL;DR: The name incontinentia pigmenti describes the characteristic, albeit non-specific, histological feature where there is incontinence of melanin from the melanocytes in the basal layer of the epidermis into the superficial dermis.