[Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus].

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The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.

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Published in: PubMed

Volume 43, Issue 4, pp. 288-294

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