Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Article
in En
| MEDLINE
| ID: mdl-32803813
Key words
Full text:
1
Collection:
01-internacional
Health context:
2_ODS3
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Vestibular Diseases
/
Uterine Cervical Neoplasms
/
Genetic Predisposition to Disease
/
DNA-Binding Proteins
/
Face
/
Histone Demethylases
/
Hematologic Diseases
/
Neoplasm Proteins
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Med Genet A
Year:
2020
Document type:
Article