Síndrome Treacher-Collins. Presentación de caso.
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Referencias
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Konstantinidou AE, Tasoulas J, Kallipolitis G, Gasparatos S, Velissariou V, Paraskevakou H. Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype. Birth Defects Res A Clin Mol Teratol [Internet]. 2013 Dic [citado 19 Dic 2014];97(12). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24288143.
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX, et al. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A [Internet]. 2014 Sep [citado 19 Dic 2014];164A(9). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24942156.
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, et al. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. Am J Med Genet A [Internet]. 2014 Oct [citado 19 Dic 2014];167A(1). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25348728.
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, et al.The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. Am J Med Genet A [Internet]. 2013 Nov [citado 19 Dic 2014];161A(11). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24108658.
Green B, Nikkhah D, Cobb AR, Dunaway DJ. Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome. J Plast Reconstr Aesthet Surg [Internet]. 2013 Ago [citado 19 Dic 2014]66(8). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23664577.
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Copyright (c) 2020 Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang
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