OBO ID: DOID:0080538 |
Term Name: | Sweeney-Cox syndrome | Search Ontology: | |
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Definition: | A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/28369379 | ||
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Ontology: | Human Disease ( DOID:0080538 ) |
OTHER Sweeney-Cox syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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