Irish Child Health Database - Peer Reviewed Papers
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1. Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion
Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some more...
Republic of Ireland
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