Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia

Christopher T. Gordon, Florence Petit, Myriam Oufadem et al. · Journal of Medical Genetics · 2012 · 98 citations

Life Sciences, Genetics, Molecular Genetics +13

“Mandibulofacial dysostosis with microcephaly” caused by <i>EFTUD2</i> mutations: Expanding the phenotype

Daniela V. Luquetti, Anne Hing, Mark J. Rieder et al. · American Journal of Medical Genetics Part A · 2012 · 71 citations · Full text

Dentistry, Craniofacial Biology, Oral Radiology +17

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Siulan Vendramini et al. · Clinical Dysmorphology · 2006 · 66 citations

Dentistry, Craniofacial Biology, Human Development +16

Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem et al. · Human Mutation · 2014 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17