Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. [electronic resource]
- Clinical genetics Mar 2006
- 246-53 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
0009-9163
10.1111/j.1399-0004.2006.00576.x doi
Adolescent Alleles Child Child, Preschool Female Genes, Neurofibromatosis 1 Humans Infant Intracellular Signaling Peptides and Proteins--genetics Male Mutation Neurofibromatosis 1--complications Noonan Syndrome--complications Pedigree Phenotype Protein Tyrosine Phosphatase, Non-Receptor Type 1 Protein Tyrosine Phosphatase, Non-Receptor Type 11 Protein Tyrosine Phosphatases--genetics Sequence Deletion