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

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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Άρθρο
Γλώσσα:English
Έκδοση: American Cleft Palate Craniofacial Association 2022
Θέματα:
Διαθέσιμο Online:https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf