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首页> 外文期刊>The Indian Journal of Pediatrics >COL1A1 Mutation in an Indian Child with Caffey Disease
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COL1A1 Mutation in an Indian Child with Caffey Disease

机译：印度儿童咖啡因病的COL1A1突变。

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摘要

Caffey disease or infantile cortical hyperostosis is a rare skeletal disorder with both sporadic and familial occurrence. The autosomal dominant familial form has been found to be a collagenopathy. The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. This is the first mutation report of an Indian case with Caffey disease.
机译：咖啡因病或婴儿皮质皮质肥大症是一种罕见的骨骼疾病，偶发性和家族性发生。已经发现常染色体显性家族形式是胶原病。报道的病例是一个患有咖啡因病的7个月大的印度男孩，他被发现在COL1A1基因中具有R1014C杂合突变。这是印度卡菲病病例的第一个突变报告。

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  • 来源
    《The Indian Journal of Pediatrics》 |2011年第7期|877-879|共3页
  • 作者

    Prajnya Ranganath; Christine M. Laine; Divya Gupta; Outi Mäkitie; Shubha R. Phadke;

  • 作者单位

    Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Rae Bareilly Road Lucknow 226014 Uttar Pradesh India;

    Department of Pediatrics Helsinki University Hospital Helsinki Finland and Folkhälsan Institute of Genetics Biomedicum Helsinki Helsinki Finland;

    Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Rae Bareilly Road Lucknow 226014 Uttar Pradesh India;

    Department of Pediatrics Helsinki University Hospital Helsinki Finland and Folkhälsan Institute of Genetics Biomedicum Helsinki Helsinki Finland;

    Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Rae Bareilly Road Lucknow 226014 Uttar Pradesh India;

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  • 正文语种 eng
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  • 关键词

    Caffey disease; Indian; COL1A1;

    机译：咖啡因病;印度;COL1A1;

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