Article
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
Human genetics - 1 Apr 2017
Kehrer-Sawatzki Hildegard, Mautner Victor-Felix, Cooper David N
Abstract excerpt
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features,...
Topics
- Cardiovascular Abnormalities
- Facies
- Gene Deletion
- Genes, Neurofibromatosis 1
- Genotype
- Humans
- Intellectual Disability
- Neurofibromatosis 1
- Phenotype