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Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.
Li, Chumei; Mernagh, John; Bourgeois, Jacqueline.
Affiliation
  • Li C; Clinical Genetics Program Departments of Radiology Pathology and Molecular Medicine, McMaster University Medical Centre and McMaster University, Hamilton, Ontario, Canada.
Clin Dysmorphol ; 18(1): 63-66, 2009 Jan.
Article in En | MEDLINE | ID: mdl-19050407
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Mandibulofacial Dysostosis Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2009 Document type: Article Affiliation country: Canada Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Mandibulofacial Dysostosis Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2009 Document type: Article Affiliation country: Canada Country of publication: United kingdom