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36 results
  1. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... led to the diagnosis) are recommended. Table 4. Treacher Collins Syndrome: Recommended Evaluations Following Initial Diagnosis View in own window System/Concern Evaluation Comment ...
  2. 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 leukodystrophy includes ...
  3. Mandibulofacial Dysostosis with Microcephaly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK214367
    ... associated with germline pathogenic variants in EFTUD2 . Differential Diagnosis Mandibulofacial Dysostosis Table 3. Genes of Interest in the Differential ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... text-role >description</text-role><html ><html:p >Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost ...
  5. Treacher Collins syndrome 
    https://medlineplus.gov/ency/article/001659.htm
    ... genes, TCOF1 , POLR1C , or POLR1D , can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member. This condition may vary in severity from generation to generation and from person to person.
  6. TXNL4A-Related Craniofacial Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK373577
    ... TCOF1 Treacher Collins syndrome (TCS) AD AR 1 ... diagnosis; ID = intellectual disability; MOI = mode of inheritance 1. ...
  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. Treacher Collins syndrome 
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome
    ... Wieczorek D. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. ...
  10. Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK55063
    ... Related Developmental Disorders. Sutton VR. GeneReviews(®). 1993 Review Treacher Collins Syndrome. [GeneReviews(®). 1993] Review Treacher Collins Syndrome. Barbosa M, ...
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