Article
Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome.
Endocrine - 1 Apr 2007
Zhou Ji, Sun Li-hao, Cui Bin, Song Huai-dong, Li Xiao-ying, Ning Guang, Liu Jian-min
Abstract excerpt
McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait' skin pigmentation, and hyperfunctional endocrinopathy. It is caused by embryonic somatic mutations leading to the substitution of His or Cys for Arg at amino acid 201 of the alpha-subunit of the signal transduction protein Gs (Gsalpha). A 32-year-old man was diagnosed as...
Topics
- Acromegaly
- Adult
- Base Sequence
- Cafe-au-Lait Spots
- DNA Mutational Analysis
- Fibrous Dysplasia, Polyostotic
- GTP-Binding Protein alpha Subunits, Gs
- Humans
- Male
- Mutation
- Tissue and Organ Harvesting