1.
Genet Couns
; 17(2): 237-43, 2006.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16970043
RESUMO
The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.