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DeCS
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Descritor Inglês:
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Antley-Bixler Syndrome Phenotype
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Descritor Espanhol:
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Fenotipo del Síndrome de Antley-Bixler
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Descritor Português:
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Fenótipo de Síndrome de Antley-Bixler
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Sinônimos Inglês:
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Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
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Categoria:
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C05.116.099.370.894.115
C05.660.906.181
C16.131.621.906.181
C16.320.565.925.324
C18.452.648.925.324
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Definição Inglês:
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An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2). |
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Nota Histórica Inglês:
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2009
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Qualificadores Permitidos Inglês:
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Número do Registro:
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53063
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Identificador Único:
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D054882
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Ocorrência na BVS:
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Similar:
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