Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

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Bibliographic Details
Published in:Frontiers of medicine 2023-10, Vol.17 (5), p.1006-1009
Main Authors: Si, Nuo, Zhan, Guoqin, Meng, Xiaolu, Zhang, Zeya, Huang, Xin, Pan, Bo
Format: Article
Language:English
Subjects:
DNA-Binding Proteins - genetics
Goldenhar Syndrome
Humans
Letter to Frontiers of Medicine
Medicine
Medicine & Public Health
Mutation
Peptide Elongation Factors - genetics
Phenotype
Protein Tyrosine Phosphatases - genetics
Ribonucleoprotein, U5 Small Nuclear - genetics
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ISSN:2095-0217
2095-0225
DOI:10.1007/s11684-023-1000-3