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

• المؤلفون الرئيسيون: Ulhaq, Zulvikar Syambani, Soraya, Gita Vita, Istifiani, Lola Ayu, Pamungkas, Syafrizal Aji, Arisanti, Ditya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur, Ayudianti, Prida, Kusuma, Muhammad A’raaf Sirojan, Shodry, Syifaus, Herawangsa, Sarah, Nurputra, Dian Kesumapramudya, Idaiani, Sri, Tse, William Ka Fai
• التنسيق: مقال PeerReviewed
• اللغة: English
• منشور في: American Cleft Palate Craniofacial Association 2022
• الموضوعات: Clinical Sciences
• الوصول للمادة أونلاين: https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf; https://repository.ugm.ac.id/278889/; https://journals.sagepub.com/home/cpc; https://doi.org/0.1177/10556656221136177
• المؤسسة: Universitas Gadjah Mada

Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). Yet, the association between the severity of clinical findings with variants within the EFT...