Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Clin Genet
; 97(2): 264-275, 2020 02.
Article
in En
| MEDLINE
| ID: mdl-31573083
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Testing
/
Neurofibromatosis 1
/
Cafe-au-Lait Spots
/
Early Diagnosis
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Clin Genet
Year:
2020
Document type:
Article
Affiliation country:
España
Country of publication:
Dinamarca