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57 results

  1. xmlmplus_topics_2025-10-01.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-10-01.xml
    ... see-reference >Positional Plagiocephaly</see-reference><see-reference >Treacher-Collins Syndrome</see-reference><site ><information-category >Genetics</information-category><organization >National ...
  2. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... live 1 March 2004 (shk,gc) Original submission References Literature Cited Beaumont CA, Dunaway DJ, Padwa BL, Forrest C, Koudstaal MJ, Caron CJJM. Extracraniofacial anomalies in Treacher Collins syndrome: a multicenter study of 248 patients. Int J ...
  3. Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus 
    https://medlineplus.gov/craniofacialabnormalities.html
    ... Thanatophoric dysplasia: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  4. Mandibulofacial Dysostosis with Microcephaly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK214367
    ... been reported to date (see Table 2 and references cited in Clinical ... Dysostosis Table 3. Genes of Interest in the Differential ...
  5. POLR3-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99167
    ... Different biallelic pathogenic variants POLR1C are associated with Treacher Collins syndrome . Differential Diagnosis The differential diagnosis of POLR3-related ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/treacher-collins-syndrome</url><title >Treacher Collins syndrome</title><other_names >< ...
  7. TXNL4A-Related Craniofacial Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK373577
    ... distinguish the 2 disorders. POLR1B POLR1C POLR1D TCOF1 Treacher Collins syndrome (TCS) AD AR 1 Mandibulofacial dysostosis w/ variable ... with ID and with craniofacial anomalies (e.g., Treacher Collins syndrome, Burn-McKeown syndrome, and acrofacial dysostosis, Cincinnati type), ...
  8. Donnai-Barrow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1878
    ... Gene Locus Links Similar articles in PubMed Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, Jabs EW, Huston S. GeneReviews(®). 1993 ...
  9. ESCO2 Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1153
    ... Gene Locus Links Similar articles in PubMed Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, Jabs EW, Huston S. GeneReviews(®). 1993 ...
  10. Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1526
    ... M, Steiner RD, Basel D. GeneReviews(®). 1993 Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, Jabs EW, Huston S. GeneReviews(®). 1993 ...
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