Valerie Newton

TL;DR: It is shown that some families with WS have mutations in the human homologue9 of Pax-3, which is one of a family of eight Pax genes known in mice which are involved in regulating embryonic development and which contains a highly conserved transcription control sequence, the paired box.

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: 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: Data are presented which suggest that there are two types of NF2, one with later onset and bilateral bilateral schwannomas as the only usual feature, and the other with earlier onset and multiple other tumours.

TL;DR: A further three PAX3 mutations are described which cause Waardenburg syndrome; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone.