Article
An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.
The Journal of clinical endocrinology and metabolism - 1 Mar 1994
Malchoff C D, Reardon G, MacGillivray D C, Yamase H, Rogol A D, Malchoff D M
Abstract excerpt
The McCune-Albright syndrome (MAS) is characterized clinically by polyostotic fibrous dysplasia, café-au-lait skin lesions, sexual precocity, and various other endocrinopathies. Recent investigations suggest an etiological role for embryonic somatic missense mutations that predict the substitution of a His or Cys for Arg at amino acid 201 of the Gs alpha-subunit (Gs alpha). Identification of these mutations in...
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