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Title

Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype

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Published in Journal of Pediatric Orthopaedics. 2007, vol. 27, no. 3, p. 266-9
Abstract Tibial hemimelia with ectrodactyly is reported for the first time in monozygotic female twins with a positive family history for limb anomalies. This very rare autosomal dominant condition is known to be associated with a highly variable phenotype, as illustrated by the distinct clinical presentations, despite identical genotype.
Keywords Abnormalities, Multiple/radiographyAmputationDiseases in Twins/genetics/surgeryFemaleFoot Deformities, Congenital/genetics/radiography/surgeryHand Deformities, Congenital/geneticsHumansInfantPedigreePhenotypeTibia/abnormalities/radiographyTwins, Monozygotic
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PMID: 17414007
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DAYER, Romain Olivier Pierre et al. Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype. In: Journal of Pediatric Orthopaedics, 2007, vol. 27, n° 3, p. 266-9. https://archive-ouverte.unige.ch/unige:44739

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Deposited on : 2015-01-08

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