论文信息 - Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

Birgit Zirn,* Maja Hempel, Andreas Hahn, Bernd Neubauer, Janine Wagenstaller, Núria Rivera-Bruguès, Tim Matthias Strom, and Angelika Köhler Institute of Human Genetics, University of Giessen, Giessen, Germany Institute of Human Genetics, Technische Universität München, Munich, Germany Department of Neuropediatrics, University of Giessen, Giessen, Germany HelmholtzZentrum München, Neuherberg, Germany

[1] V. Liebscher,et al. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. , 2007, American journal of human genetics.

[2] L. Santoro,et al. Multimodal electrophysiologic follow-up study in 3 mutated but presymptomatic members of a spinocerebellar ataxia type 1 (SCA1) family , 2005, Neurological Sciences.

[3] G. Mirza,et al. Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes , 2004, European Journal of Human Genetics.

[4] G. Mirza,et al. An interstitial deletion of 6p24-p25 proximal to theFKHL7 locus and includingAP-2α that affects anterior eye chamber development. , 1999, Journal of medical genetics.

[5] G. Mirza,et al. Delineation of two distinct 6p deletion syndromes , 1999, Human Genetics.

[6] A. Perkins,et al. AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[7] V. Sheffield,et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 , 1998, Nature Genetics.

[8] J. Ragoussis,et al. A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome , 1996, Human Genetics.

[9] D. Comings,et al. Partial deletion of chromosome 6p: delineation of the syndrome. , 1991, American journal of medical genetics.