No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.

Subjects

Subjects :

Amino Acid Substitution
DNA Mutational Analysis
Female
Humans
Male
Point Mutation
Syndrome
Abnormalities, Multiple genetics
Craniofacial Abnormalities genetics
Genes, ras
Intellectual Disability genetics
MAP Kinase Signaling System genetics
Mutation

Details

Language :

English

ISSN :

1552-4833

Volume :

146A

Issue :

14

Database :

MEDLINE

Journal :

American journal of medical genetics. Part A

Publication Type :

Academic Journal

Accession number :

18553519

Full Text :

https://doi.org/10.1002/ajmg.a.32382