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Article

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

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Apr 2024

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

Abstract excerpt

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 EFTUD2 gene has not been established. Thus, we aim to elucidate a possible genotype-phenotype correlation in MFDM....

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PMID: 36317361
DOI: 10.1177/10556656221136177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.PMID 36317361Read ↗

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