Treacher Collins syndrome

*Gene map locus 5q32-q33.1

MFD1

Mandibulofacial dysostosis

TCOF

TCS

Treacher Collins-Franceschetti syndrome

[Clinical features: antimongoloid slant of the eyes; coloboma of the lid; micrognathia; microtia; hypoplastic zygomatic arches; macrostomia]

[Inheritance: autosomal dominant]

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Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration	Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies	Treacher Collins syndrome
British Journal of Ophthalmology	British Journal of Ophthalmology	Craniofacial Center - Dallas, Texas


Mandibulofacial Dysostosis (Treacher Collins Syndrome)	Mandibulofacial Dysostosis (Treacher Collins Syndrome)	Mandibulofacial Dysostosis (Treacher Collins Syndrome)
eMedicine	eMedicine	eMedicine


Mandibulofacial Dysostosis (Treacher Collins Syndrome)	Mandibulofacial Dysostosis (Treacher Collins Syndrome)	Mandibulofacial Dysostosis (Treacher Collins Syndrome)
eMedicine	eMedicine	eMedicine


Mandibulofacial Dysostosis (Treacher Collins Syndrome)	Mandibulofacial Dysostosis (Treacher Collins Syndrome)	Mandibulofacial Dysostosis (Treacher Collins Syndrome)
eMedicine	eMedicine	eMedicine


Preauricular tags on a patient with Treacher Collins syndrome	Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation	Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
eMedicine	European Journal of Human Genetics	European Journal of Human Genetics

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Edited by Aldo Campana, February 8, 2010