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Human Disease

Treacher Collins syndrome 4

Term ID
DOID:0080792
Synonyms
Definition
A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. https://pubmed.ncbi.nlm.nih.gov/31649276/
References
  • MIM:618939
Ontology
Human Disease   ( DOID:0080792 )
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