Abstract
Tibial hemimelia-polydactyly-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested. The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation. This case further supports a causal relationship between this mutation and the phenotype.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / diagnostic imaging
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Ectromelia / diagnostic imaging
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Ectromelia / genetics*
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Fingers / abnormalities
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Gene Expression Regulation, Developmental*
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Hedgehog Proteins / genetics*
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Humans
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Infant, Newborn
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Male
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Point Mutation
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Polydactyly / diagnosis
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Polydactyly / genetics*
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Radiography
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Rare Diseases
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Syndrome
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Tibia / abnormalities
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Tibia / diagnostic imaging
Substances
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Hedgehog Proteins
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SHH protein, human