The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome ( TCS ) / mandibulofacial dysostosis ( MFD ) phenotypes are heterogeneous, including RPS26 ( the known DBA10 gene ), TSR2 which encodes a direct binding partner of RPS26, and RPS28.
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Congenital craniofacial differences are conditions affecting the head and face that present at or shortly after birth such as craniosynostosis, cleft lip and palate, hemifacial microsomia ( aka craniofacial microsomia, oculoauriculovertebral spectrum, or Goldenhar syndrome ), and Treacher Collins syndrome ( aka mandibulofacial dysostosis ).
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"People see the face as being so centrally important that when it does go wrong, it can be devastating, " said Dr . Michael J . Dixon, who led the team at the University of Manchester that found the Treacher Collins syndrome gene, calling it the Treacle gene.
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Leighton's other appearances include roles on several television shows including " Pretty Little Liars " as Danielle, " Grey's Anatomy " as patient Sarah Cassidy with Treacher Collins syndrome, " 90210 " as Alex Scarborough, " Criminal Minds " as Trish Leake, and as a singing Cactus Kid in " Six Feet Under ".
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He was a famous ophthalmologist and wrote a textbook " Diseases of the Eye " ( 1893 ) that was widely used in the U . K . and U . S . A . In 1889, Berry published a description of a case of Treacher Collins syndrome ( sometimes called Berry-Treacher Collins syndrome ).
16.
He was a famous ophthalmologist and wrote a textbook " Diseases of the Eye " ( 1893 ) that was widely used in the U . K . and U . S . A . In 1889, Berry published a description of a case of Treacher Collins syndrome ( sometimes called Berry-Treacher Collins syndrome ).
