A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.

Zulvikar Syambani UlhaqGita Vita SorayaLola Ayu IstifianiSyafrizal Aji PamungkasDitya ArisantiBadariyatud DiniLina Fitria AstariYuliono Trika Nur HasanPrida AyudiantiMuhammad A'raaf Sirojan KusumaSyifaus ShodrySarah HerawangsaDian Kesumapramudya NurputraSri IdaianiWilliam Ka Fai Tse

Published in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2022)

Altogether, this article provides the pathogenic variants observed in EFTUD2 and possible genotype-phenotype relationships in this disease.

Keyphrases

copy number
gene expression
dna methylation