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42 results
  1. Treacher Collins syndrome 
    https://medlineplus.gov/ency/article/001659.htm
    Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families ( ...
  2. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... Search term GeneReviews Advanced Search Help < Prev Next > Treacher Collins Syndrome Synonyms: Mandibulofacial Dysostosis, Treacher Collins-Franceschetti Syndrome Mafalda ...
  3. Craniofacial Abnormalities 
    https://medlineplus.gov/craniofacialabnormalities.html
    Craniofacial abnormalities (or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more. ... Craniofacial is ...
  4. Mandibulofacial Dysostosis with Microcephaly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK214367
    ... Search term GeneReviews Advanced Search Help < Prev Next > Mandibulofacial Dysostosis with Microcephaly Synonym: Mandibulofacial Dysostosis, Guion-Almeida Type ( ...
  5. 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/ ...
  6. 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), ...
  7. 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, ...
  8. 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 >< ...
  9. Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1189
    ... Syndrome. Loeys BL, Dietz HC. GeneReviews(®). 1993 Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, ...
  10. Warsaw Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... Syndrome. Nowaczyk MJM, Wassif CA. GeneReviews(®). 1993 Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, ...
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Craniofacial abnormalities (or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more.

Learn more »