Article
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
Journal of medical genetics - 1 Jul 2005
Baser M E, Kuramoto L, Woods R, Joe H, Friedman J M, Wallace A J, Ramsden R T, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lázaro C, Joncourt F, Parry D M, Rouleau G A, Evans D G R
Abstract excerpt
Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown. We evaluated genotype-phenotype correlations, with particular focus on the location of splice site mutations, using mutation and clinical information on 831 patients from 528 NF2 families with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.