A de novo synonymous variant in EFTUD2 disrupts normal...

BMC Medical Genetics 2020 / 12 Vol. 21; Iss. 1

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash
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Volume:
21
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-020-01121-y
Date:
December, 2020
File:
PDF, 1.62 MB
2020
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