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Homozygosity mapping of a third Joubert syndrome locus to 6q23.
Lagier-Tourenne, C.; Boltshauser, E.; Breivik, N.; Gribaa, M.; Bétard, C.; Barbot, C.; Koenig, M.J Med Genet. 2004 Apr;41(4):273-7. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. IGBMC, CNRS/INSERM/ULP, Illkirch, C.U. de Strasbourg, France. Abstract BACKGROUND: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxi...
Data: 2004
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Origem: Repositório Científico do Centro Hospitalar do Porto
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