Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle, Diana

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). [electronic resource] - American journal of medical genetics. Part A May 2003 - 1-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4825

10.1002/ajmg.a.20023 doi


Adolescent
Adult
Child
DNA Mutational Analysis
Genes, Neurofibromatosis 1
Humans
Intracellular Signaling Peptides and Proteins
Male
Neurofibromatoses--genetics
Noonan Syndrome--genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 1
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Protein Tyrosine Phosphatases--genetics