Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

Stevenson, D A

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