Literature DB >> 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.

Chumei Li1, John Mernagh, Jacqueline Bourgeois.   

Abstract

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Mesh：

Year:  2009        PMID： 19050407     DOI： 10.1097/MCD.0b013e328318c4fb

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  5 in total

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Review 2.  Common mechanisms in development and disease: BMP signaling in craniofacial development.

Authors:  Daniel Graf; Zeba Malik; Satoru Hayano; Yuji Mishina
Journal:  Cytokine Growth Factor Rev       Date:  2015-11-24       Impact factor: 7.638

3.  Surgical treatment of scoliosis in Treacher Collins syndrome: a case report.

Authors:  Christos Karampalis; Nikolaos Bounakis; Athanasios I Tsirikos
Journal:  J Med Case Rep       Date:  2014-12-19

Review 4.  Update on 13 Syndromes Affecting Craniofacial and Dental Structures.

Authors:  Theodosia N Bartzela; Carine Carels; Jaap C Maltha
Journal:  Front Physiol       Date:  2017-12-14       Impact factor: 4.566

Review 5.  The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Authors:  Meredith A Williams; Ariadne Letra
Journal:  Genes (Basel)       Date:  2018-05-16       Impact factor: 4.096
  5 in total

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