Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

@article{Lines2012HaploinsufficiencyOA,
  title={Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.},
  author={Matthew A Lines and Lijia Huang and Jeremy Schwartzentruber and Stuart L Douglas and Danielle C. Lynch and Chandree L. Beaulieu and Maria Leine Guion-Almeida and Roseli M Zechi-Ceide and Blanca Gener and G Gillessen-kaesbach and Caroline Nava and Genevi{\`e}ve Baujat and Denise Horn and Usha Kini and Almuth Caliebe and Yasemin Alanay and G{\"u}len Eda Utine and Dorit Lev and Juergen Kohlhase and Arthur W Grix and Dietmar Rudolf Lohmann and Ute Hehr and Detlef Boehm and Jacek Majewski and Dennis E. Bulman and Dagmar Wieczorek and Kym M. Boycott},
  journal={American journal of human genetics},
  year={2012},
  volume={90 2},
  pages={369-77}
}
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To… CONTINUE READING
42 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 42 extracted citations

Similar Papers

Loading similar papers…