High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Article
in En
| MEDLINE
| ID: mdl-26178382
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Phenotype
/
Codon
/
Amino Acid Substitution
/
Mutation, Missense
/
Neurofibromin 1
/
Noonan Syndrome
Type of study:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Language:
En
Journal:
Hum Mutat
Journal subject:
GENETICA MEDICA
Year:
2015
Document type:
Article
Country of publication:
Estados Unidos