Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human facial dysostoses

(2013) D Wieczorek   CLINICAL GENETICS

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

(2013) Claudia Voigt et al.   Orphanet Journal of Rare Diseases

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

(2012) Matthew A. Lines et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

(2012) Francois P. Bernier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“Mandibulofacial dysostosis with microcephaly” caused byEFTUD2mutations: Expanding the phenotype

(2012) Daniela V. Luquetti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulated pre-mRNA splicing: The ghostwriter of the eukaryotic genome

(2012) Tracy L. Johnson et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

EFTUD2haploinsufficiency leads to syndromic oesophageal atresia

(2012) Christopher T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Antenatal spectrum of CHARGE syndrome in 40 fetuses withCHD7mutations

(2012) Marine Legendre et al.   JOURNAL OF MEDICAL GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum

(2010) Rebecca Sutphen et al.   CLINICAL GENETICS

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome?

(2009) Maria Leine Guion-Almeida et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A