Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. [electronic resource]
Producer: 20060525Description: 246-53 p. digitalISSN:- 0009-9163
- 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
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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