Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

doi:10.1007/s004390050438

Back to search

Article

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

Human genetics - 1 Jun 1997

Valero M C, Pascual-Castroviejo I, Velasco E, Moreno F, Hernández-Chico C

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. To date, a relatively small number of NF1 mutations have been characterized, thus precluding genotype-phenotype correlations. By genotyping 75 NF1 families, we have detected six hemizygous patients (two of whom are members of...

Topics

Adolescent
Adult
Child, Preschool
Female
Gene Deletion
Genomic Imprinting
Humans
Male
Molecular Sequence Data
Neurofibromin 1
Pedigree
Phenotype
Proteins

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.