Variant: rs1085307457 

    present in Gene: EFTUD2
    present in Chromosome: 17
    Position on Chromosome: 44879555
    Alleles of this Variant: C/A

rs1085307457 in EFTUD2 gene and Dysmorphic features PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 19921636 2009 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?

PMID 16760738 2006 A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

PMID 27670155 2017 Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

PMID 23239648 2013 """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."

PMID 25735261 2015 Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

PMID 24470203 2014 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

PMID 25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

PMID 24266672 2015 Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

PMID 26507355 2016 Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

PMID 26118977 2015 EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

PMID 23879989 2013 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

PMID 23188108 2012 EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.