Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

Abstract

X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with developmental delay and SNHL that maps to a locus associated with… (More)

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Cite this paper

@article{Hildebrand2007MolecularCO, title={Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.}, author={Michael S. Hildebrand and Michelle G de Silva and Tiong Yang Tan and Elizabeth H. Rose and Carla J. Nishimura and Tanya Tolmachova and Joanne M. Hulett and Susan M White and Jeremy Silver and Melanie Bahlo and Richard J. H. Smith and H M Dahl}, journal={American journal of medical genetics. Part A}, year={2007}, volume={143A 21}, pages={2564-75} }