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EFTUD2,Mandibulofacial dysostosis with microcephaly,de novo,Synonymous splice variant,Exonic splice enhancer variant,Whole-exome sequencing,Case report
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10.1186/s12881-020-01121-y
BMC Medical Genetics
BMC Medical Genetics, 2020, doi:10.1186/s12881-020-01121-y
EFTUD2
Mandibulofacial dysostosis with microcephaly
de novo
Synonymous splice variant
Exonic splice enhancer variant
Whole-exome sequencing
Case report
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
Arthur Jacob
Jennifer Pasquier
Raphael Carapito
Frédéric Auradé
Anne Molitor
Philippe Froguel
Khalid Fakhro
Najeeb Halabi
Géraldine Viot
Seiamak Bahram
Arash Rafii
2020-09-17T13:53:25+02:00
2020-09-17T13:53:25+02:00
2020-09-17T07:24:23+08:00
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