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  • X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

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Original article
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

Authors

  • Arnold L Christianson aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Roger E Stevenson aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • C H van der Meyden aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Julie Pelser aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Francois W Theron aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Petro L van Rensburg aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Michael Chandler aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  • Charles E Schwartz aDepartment of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, PO Box 2034, Pretoria 0001, South Africa, bJ C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA, cDepartment of Neurology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, dDepartment of Anatomical Pathology, Faculty of Medicine, University of Pretoria, Pretoria, South Africa, eGenetic Services Division, Gauteng Department of Health, Gauteng Provincial Government, Pretoria, South Africa PubMed articlesGoogle scholar articles
  1. Professor Christianson.
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Citation

Christianson AL, Stevenson RE, van der Meyden CH, et al
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
Journal of Medical Genetics 1999;36:759-766.

Publication history

  • Revised June 15, 1999
  • Accepted July 5, 1999
  • First published October 1, 1999.
Online issue publication 
April 27, 2016

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Journal of Medical Genetics