Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.
- Author:
Nuo SI
1
;
Guoqin ZHAN
1
;
Xiaolu MENG
1
;
Zeya ZHANG
1
;
Xin HUANG
1
;
Bo PAN
2
Author Information
- Publication Type:Letter
- MeSH: Humans; Goldenhar Syndrome; Phenotype; Mutation; DNA-Binding Proteins/genetics*; Protein Tyrosine Phosphatases/genetics*; Peptide Elongation Factors/genetics*; Ribonucleoprotein, U5 Small Nuclear/genetics*
- From: Frontiers of Medicine 2023;17(5):1006-1009
- CountryChina
- Language:English
