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- W2087096075 abstract "We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. © 1994 Wiley-Liss, Inc." @default.
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- W2087096075 date "1994-01-01" @default.
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- W2087096075 title "Short rib-polydactyly syndrome and pericentric inversion of chromosome 4" @default.
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- W2087096075 doi "https://doi.org/10.1002/ajmg.1320490118" @default.
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