Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)
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[1] C. Baldwin,et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome , 1992, Nature.
[2] R. Balling,et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene , 1992, Nature.
[3] R. Spritz,et al. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[4] T. Friedman,et al. Mouse and hamster mutants as models for Waardenburg syndromes in humans. , 1990, Journal of medical genetics.
[5] A. Read,et al. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. , 1990, American journal of human genetics.
[6] N. Niikawa,et al. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). , 1989, American journal of medical genetics.
[7] S. Clarren,et al. Waardenburg syndrome associated with meningomyelocele. , 1992, American journal of medical genetics.
[8] T. Friedman,et al. Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q. , 1991, American journal of human genetics.