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8 results
  1. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... PubMed : 24123981 ] Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275–83. [ PMC free article : PMC2986179 ] [ PubMed : ... Collins syndrome: correlation between molecular genetic findings and clinical severity. ...
  2. Treacher Collins syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome
    ... on PubMed Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009 Mar;17(3):275-83. doi: 10.1038/ejhg.2008.221. Epub 2008 Dec 24. Citation on PubMed or Free article on PubMed Central ... Collins syndrome Understanding Genetics What is the prognosis of a ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Treacher Collins syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. CHD7 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1117
    ... appear as otocephaly-dysgnathia complex POLR1C POLR1D TCOF1 Treacher Collins syndrome AD AR Choanal atresia, external ear anomalies, hearing ... Beck-Fahrner Syndrome. Fahrner JA. GeneReviews(®). 1993 Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, ...
  5. xmlmplus_topics_2024-12-24.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-12-24.xml
    ... see-reference >Positional Plagiocephaly</see-reference><see-reference >Treacher-Collins Syndrome</see-reference><site ><information-category >Genetics</information-category>< ...
  6. Diamond-Blackfan Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7047
    ... FACTOR; TSR2 300946 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14 305371 GATA-BINDING PROTEIN 1; GATA1 602412 ... 2; DBA2 606164 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 607526 RIBOSOMAL PROTEIN L27; RPL27 610629 DIAMOND- ...
  7. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... Stevenson DA, Bleyl SB, Maxwell T, et al. Mandibulofacial dysostosis in a patient with a de novo 2; ... dental caries on anterior teeth in breastfeeding infants: prevention, diagnosis, and treatment. J Hum Lact. 2010 Aug; ...