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...

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Dettagli Bibliografici
Autori principali: 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
Natura: Articolo
Lingua:English
Pubblicazione: American Cleft Palate Craniofacial Association 2022
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Accesso online:https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf