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...
主要な著者: | , , , , , , , , , , , , , , |
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フォーマット: | 論文 |
言語: | English |
出版事項: |
American Cleft Palate Craniofacial Association
2022
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主題: | |
オンライン・アクセス: | https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf |