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105 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: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome
    ... development. Learn more about the genes associated with Treacher Collins syndrome POLR1C POLR1D TCOF1 Inheritance When Treacher Collins syndrome results from variants in the TCOF1 or POLR1D ...
  3. 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 ...
  4. 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 ...
  5. TCOF1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tcof1
    ... is produced. Health Conditions Related to Genetic Changes Treacher Collins syndrome About 200 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ...
  6. POLR1C gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/polr1c
    ... the face. Health Conditions Related to Genetic Changes Treacher Collins syndrome At least six mutations in the POLR1C gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ...
  7. POLR1D gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/polr1d
    ... the face. Health Conditions Related to Genetic Changes Treacher Collins syndrome At least 20 mutations in the POLR1D gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ...
  8. 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 ( ...
  9. Mandibulofacial dysostosis with microcephaly: MedlinePlus Genetics 
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly
    ... understood. Learn more about the gene associated with Mandibulofacial dysostosis with microcephaly EFTUD2 Inheritance This condition is inherited ... three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009 May;149A( ...
  10. 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/ ...
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