Results 1 to 10 of about 50 (27)
McCune Albright Syndrome [PDF]
Kansas Journal of Medicine, 2020 © 2020 The University of Kansas Medical Center. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: https://creativecommons.org/licenses/by-nc-nd/4.0/).
Jibbe, Nada +2 more
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McCune-Albright syndrome [PDF]
Rheumatology, 2011 McCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown.
Juraj Payer +6 more
+10 more sources
McCune-Albright syndrome [PDF]
Orphanet Journal of Rare Diseases, 2008 McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally,
Collins Michael T, Dumitrescu Claudia E
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Some of the next articles are maybe not open access.
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,
W F, Schwindinger, M A, Levine
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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,
W F, Schwindinger, M A, Levine
openaire +3 more sources
Infantile McCune–Albright Syndrome
Pediatric Dermatology, 2001McCune–Albright syndrome is a rare disorder caused by an activating mutation of the α subunit of the Gs protein and is characterized by multiple hormonal abnormalities, fibrous dysplasia of bone, and cutaneous pigmentation. We report a 10‐week‐old infant with McCune–Albright syndrome. He presented with failure to thrive, cardiorespiratory distress, and
Davies, J.H. +3 more
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Acta Endocrinologica, 1986
Abstract. The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. To date, a complex combination of multiple endocrinopathies including goiter, hyperthyroidism, acromegaly, Cushing syndrome, hyperprolactenemia, sexual precocity ...
N, Mauras, R M, Blizzard
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Abstract. The presence of polyostotic fibrous dysplasia of bone, hyperpigmented skin macules, and precocious sexual development in children is known as the McCune-Albright syndrome. To date, a complex combination of multiple endocrinopathies including goiter, hyperthyroidism, acromegaly, Cushing syndrome, hyperprolactenemia, sexual precocity ...
N, Mauras, R M, Blizzard
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McCune-Albright Syndrome with Acromegaly
Hormone and Metabolic Research, 1989This article demonstrates that acromegaly and hyperprolactinaemia can occur in a patient with McCune-Albright syndrome without any evidence of other endocrine ...
Chan, G +5 more
openaire +4 more sources