Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 2009 English Publisher:Ovid Technologies (Wolters Kluwer Health)Journal:Clinical Dysmorphology, volume 18, pages 63-66 (issn: 0962-8827,

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Authors: Chumei, Li; John, Mernagh; Jacqueline, Bourgeois;

doi: 10.1097/mcd.0b013e328318c4fb

pmid: 19050407

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene

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Abstract

List of key featuresProminent foreheadGeneral anomalies of external earsMiddle earInner earMicrophthalmiaIris colobomaRetinal colobomaAbnormal eyebrowsAbnormal eyelashesBroad noseLarge noseSmall faceFacial cleftMicrognathiaMicropenisCryptorchid testesHypoplastic scrotumSummaryWe report a case of Tre

Related Organizations

McMaster University
Canada
Hamilton Health Sciences
Canada
McMaster University Medical Centre
Canada

Keywords

Male, Infant, Newborn, Mutation, Missense, Humans, Syndrome, Mandibulofacial Dysostosis

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