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Title

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

Authors
Vargas, F. R.
Roessler, E.
Gaudenz, K.
Belloni, E.
Whitehead, A. S.
Kirke, P. N.
Mills, J. L.
Hooper, G.
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Published in Human Genetics. 1998, vol. 102, no. 4, p. 387-392
Abstract The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories. OFF
Keywords Abnormalities, Multiple/ geneticsBase SequenceChromosomes, Human, Pair 7Cloning, MolecularExonsHedgehog ProteinsHumansMolecular Sequence DataPolydactyly/ geneticsPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticProteins/ analysis/ geneticsSacrococcygeal Region/ abnormalitiesSequence Analysis, DNAThumb/ abnormalitiesTrans-Activators
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PMID: 9600232
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VARGAS, F. R. et al. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. In: Human Genetics, 1998, vol. 102, n° 4, p. 387-392. https://archive-ouverte.unige.ch/unige:9063

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Deposited on : 2010-07-12

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