Mazabraud's syndrome: A case report supported by molecular studies and review of the literature

Autor: Ludvík Kašpar, Jan Balko, Martina Strnadová, Lenka Krsková, David Máška, Josef Zámečník

Publikováno v: Bone Reports, Vol 18, Iss , Pp 101685- (2023)

Mazabraud's syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this conditio

Externí odkaz: https://doaj.org/article/b2358477b7fd456a8162e08c6042a364

McCune-Albright syndrome

Autor: Juraj Payer, Jana Kollerová

Publikováno v: Rheumatology, Vol 49, Iss 2, Pp 81-89 (2011)

McCune-Albright syndrome belongs to rare genetic diseases.Albright initially described the syndrome in 1937 as the triad andMcCune extended it to include manifestations of hyperthyroidism.Other signs were attributed to the clinical picture later on a

Externí odkaz: https://doaj.org/article/41d93cb55df240e68f89ecb65c3cb470

Postpubertal Persistent Hyperestrogenemia in McCune-Albright Syndrome: Unilateral Oophorectomy Improved Fertility but Detected an Unexpected Borderline Epithelial Ovarian Tumor

Autor: Françoise Paris, Patrick Fénichel, Jérôme Delotte, Sylvie Fontana, Nicolas Chevalier, Patricia Ferrari, Laura Gaspari, Charles Sultan

Publikováno v: Journal of Pediatric and Adolescent Gynecology
Journal of Pediatric and Adolescent Gynecology, Elsevier, 2015, 28 (6), pp.e169-e172. ⟨10.1016/j.jpag.2015.04.001⟩

International audience; BACKGROUND:McCune-Albright syndrome (MAS), due to a somatic mutation of the GNAS1 gene, begins usually in girls with peripheral precocious puberty. Ovarian autonomy may persist in adulthood with acyclic hyperestrogenemia, infe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb6286fa87527dfbd899ea995091789
https://hal.umontpellier.fr/hal-01952546

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