Disease: Growth and mental retardation- mandibulofacial dysostosis- microcephaly- and cleft palate
- A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
- Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family
- Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome
- EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type
- Mandibulofacial Dysostosis with Microcephaly
- 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?
- Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations
- The nosology of Richieri-Costa/Guion-Almeida syndrome(s)