Katsumi Goji

Summary

Country: Japan

Publications

  1. ncbi request reprint Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait
    Katsumi Goji
    Department of Endocrinology and Metabolism, Kobe Children s Hospital, 1 1 1 Takakuradai, Suma ku, Kobe 654 0081, Japan
    J Clin Endocrinol Metab 91:365-70. 2006
  2. doi request reprint Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction
    Katsumi Goji
    Department of Endocrinology and Metabolism, Kobe Children s Hospital, Suma ku, Kobe 654 0081, Japan
    Endocrine 35:397-401. 2009

Detail Information

Publications2

  1. ncbi request reprint Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait
    Katsumi Goji
    Department of Endocrinology and Metabolism, Kobe Children s Hospital, 1 1 1 Takakuradai, Suma ku, Kobe 654 0081, Japan
    J Clin Endocrinol Metab 91:365-70. 2006
    ..Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively...
  2. doi request reprint Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction
    Katsumi Goji
    Department of Endocrinology and Metabolism, Kobe Children s Hospital, Suma ku, Kobe 654 0081, Japan
    Endocrine 35:397-401. 2009
    ..We report a molecular study of a boy with gonadotropin-independent precocious puberty caused by a Leydig cell tumor...