- 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 traitKatsumi 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...
- 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...