Data on Mandibulofacial Dysostosis Detailed by Researchers at Kyushu University (A Brief Analysis On Clinical Severity of Mandibulofacial Dysostosis Guion-almeida Type).

Researchers at Kyushu University in Fukuoka, Japan, have conducted a study on Mandibulofacial Dysostosis, specifically focusing on the clinical severity of the Guion-Almeida type. The study aimed to establish a genotype-phenotype correlation in patients with this condition, particularly looking at the influence of genetic variants in the EFTUD2 gene. The research found that while there was no clear genotype-phenotype correlation overall, Asians tended to exhibit more severe clinical manifestations compared to Caucasians, with cardiac abnormalities being a predisposing factor for increased severity. This study provides valuable insights into the pathogenic variants of EFTUD2 and potential genotype-phenotype relationships in Mandibulofacial Dysostosis. [Extracted from the article]