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  1. 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 ...
  2. Treacher Collins Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1532
    ... LM, Moron AF, Aldrighi JM. Prenatal diagnosis of Treacher-Collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. Case Rep Obstet ...
  3. Burn-McKeown Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK373577
    ... be associated with pathogenic variants in TXNL4A . Differential Diagnosis Treacher Collins syndrome (TCS) is a mandibulofacial dysostosis with variable expressivity . ...
  4. Treacher Collins syndrome: MedlinePlus Genetics 
    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. ...
  5. 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 ...
  6. 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.
  7. Mandibulofacial dysostosis with microcephaly: MedlinePlus Genetics 
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly
    ... The relationship between these mutations and the specific symptoms of MFDM is not well understood. Learn more about the gene associated with Mandibulofacial dysostosis with microcephaly EFTUD2 Inheritance This condition is inherited ...
  8. NLM Digital Collections - Oral Health in America: A Report of the Surgeon General (pages 26-50) 
    Publication: National Institute of Dental and Craniofacial Research (U.S.), 2000
    resource.nlm.nih.gov/101584932X145
    ... needed to provide the information necessary for prenatal diagnosis, calculation of risk, and potential gene therapy. The Treacher Collins Syndrome— Mandibulofacial Dysostosis Children with the Treacher Collins syndrome ...
  9. NLM Digital Collections - Oral Health in America: A Report of the Surgeon General 
    Publication: National Institute of Dental and Craniofacial Research (U.S.), 2000
    resource.nlm.nih.gov/101584932X142
    ... needed to provide the information necessary for prenatal diagnosis, calculation of risk, and potential gene therapy. The Treacher Collins Syndrome— Mandibulofacial Dysostosis Children with the Treacher Collins syndrome ...
  10. NLM Digital Collections - MEDLARS indexing and searching aids 
    Publication: Springfield, Va. : National Technical Information Service, 1972
    resource.nlm.nih.gov/0367351
    ... ENLARGEMENT (IM) HEART VENTRICLE (NIM) Treacher Collins' syndrome MANDIBULOFACIAL DYSOSTOSIS (IM) Treitz's hernia HERNIA (IM) RETROPERITONEAL SPACE (IM) Trendelenburg's symptom PARALYSIS (IM) BUTTOCKS (IM) GAIT (IM) Troell-Junet ...
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