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McCune-Albright syndrome. Report of a male patient
The Turkish Journal of Pediatrics, 1965 N Bilginturan
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Journal of Bone and Mineral Research, 2023
Fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) is a rare mosaic bone and endocrine disorder. Although most variants affect the GNAS R201 codon, obtaining a genetic diagnosis is difficult because not all cells harbor the variant, and an invasive ...
K. Roszko +5 more
semanticscholar +1 more source
Fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) is a rare mosaic bone and endocrine disorder. Although most variants affect the GNAS R201 codon, obtaining a genetic diagnosis is difficult because not all cells harbor the variant, and an invasive ...
K. Roszko +5 more
semanticscholar +1 more source
Trends in Endocrinology & Metabolism, 1993
McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in G(s)alpha that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis,
Michael A. Levine +1 more
openaire +6 more sources
McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in G(s)alpha that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis,
Michael A. Levine +1 more
openaire +6 more sources