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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » N » N-Acetylglucosaminyltransferases/ genetics

N-Acetylglucosaminyltransferases/ genetics

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  • 1.   Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion

    This case report discusses a boy with an oligo array-cgh characterised small microdeletion involving EXT1 alone but with some features of Langer-giedion syndrome suggesting a functional disturbance of TRPS1

    Am J Med Genet A, Vol: 146A Page: 1587-92 June 2008
    J. McBrien; J. A. Crolla; S. Huang; J. Kelleher; J. Gleeson; S. A. Lynch

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