DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Lines MA, Huang L, Schwartzentruber J , et al; FORGE Canada Consortium.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Am J Hum Genet 2012;
90 (2) 369-377
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