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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with eftud2 mutations.International audienceBACKGROUND: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536)....

santé / droit international - core.ac.uk - PDF: core.ac.uk

Franceschetti’s syndrome

santé - iate.europa.eu

Treacher Collins syndrome

santé - iate.europa.eu

Publications scientifiques

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Mutation testing in treacher collins syndromeObjective: To report on a study where 97 subjects were screened for mutations in the Treacher Collins syndrome (TCS) gene TCOF1....

santé - core.ac.uk - PDF: jorthod.maneyjournals.org

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Supplementary material for: first report of a single exon deletion in tcof1 causing treacher collins syndromeTreacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects....

santé / Asie - Océanie - core.ac.uk - PDF: figshare.com

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Treacher collins syndromeTreacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures....

général - core.ac.uk - PDF: doaj.org

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Treacher collins syndrome; anesthetic considerations and molecular findingsTreacher Collins Syndrome (TCS) is a rare disease with mandibulofacial dysostosis....

général - core.ac.uk - PDF: doaj.org

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Multi-facial anomalies in mandibulofacial dysostosis. a report of three cases.Mandibulofacial dysostosis is readily recognized on the basis of a characteristic facial appearance caused by hard and soft tissue abnormalities of the face, including malformations...

général - core.ac.uk - PDF: doaj.org