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名词信息
中 文 名:
下颌骨颜面发育不全
英 文 名:
mandibulofacial dysostosis
中文又称:
中文曾称:
名词来源:
所属专业:
口腔科
所属类别:
疾病诊断名词
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Pubmed相关的文献
mandibulofacial dysostosis
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Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.
Genes (Basel). 2021 Sep 9;12(9):1392. doi: 10.3390/genes12091392.
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Mandibulofacial dysostosis.
STOVIN JJ, LYON JA Jr, CLEMMENS RL.
Radiology. 1960 Feb;74:225-31. doi: 10.1148/74.2.225.
PMID:13835025
Mandibulofacial dysostosis.
Pashayan H.
Cleft Palate J. 1978 Jan;15(1):79.
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[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].
Li X, Hong M, Dai P, Yuan Y.
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Mandibulofacial dysostosis with microcephaly: a syndrome to remember.
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Mandibulofacial dysostosis. Case report.
Anil S, Beena VT, Ankathil R, Remani P, Vijayakumar T.
Aust Dent J. 1995 Feb;40(1):39-42. doi: 10.1111/j.1834-7819.1995.tb05612.x.
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A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.
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Mandibulofacial dysostosis Bauru type syndrome: A new case.
Zechi-Ceide RM, Guion-Almeida ML.
Am J Med Genet. 1999 Sep 10;86(2):199-201. doi: 10.1002/(sici)1096-8628(19990910)86:2<199::aid-ajmg24>3.0.co;2-p.
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Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
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