Sequencing of the gnas gene in hungarian patients with pseudohypoparathyroidism and mccune-albright syndrome

Author(s):  
Gábor Nyirő ◽  
Attila Patocs ◽  
Péter Igaz
2007 ◽  
Vol 46 (18) ◽  
pp. 1577-1583 ◽  
Author(s):  
Mari Imanaka ◽  
Keiji Iida ◽  
Hitoshi Nishizawa ◽  
Hidenori Fukuoka ◽  
Ryoko Takeno ◽  
...  

2017 ◽  
Vol 4 (2) ◽  
pp. 43
Author(s):  
W. Phillip Law ◽  
Peter Jackson

McCune-Albright syndrome is a very rare genetic disorder resulting from a sporadically occurring somatic \textit{GNAS} gene mutation. It is characterised by the association of: endocrinopathy (most commonly precocious puberty), polyostotic fibrous dysplasia, and cutaneous pigmentation with café-au-lait spots with edges resembling the coast of Maine. We present a case of McCune-Albright syndrome with unilateral polyostotic fibrous dysplasia including involvement of the skull and facial bones on one side resulting in an appearance on skeletal scintigraphy resembling the characteristic mask of the “Phantom of the Opera”.


2003 ◽  
Vol 9 ◽  
pp. 15-16
Author(s):  
Manju Chandran ◽  
Eric N. Gold ◽  
Roopa Sathyaprakash ◽  
Leonard J. Deftos

2020 ◽  
Vol 7 (3) ◽  
pp. 147-152
Author(s):  
Salman Ghaffari ◽  
◽  
Mehran Razavipour ◽  
Parastoo Mohammad Amini ◽  
◽  
...  

McCune-Albright Syndrome (MAS) is characterized by endocrinopathies, café-au-lait spots, and fibrous dysplasia. Bisphosphonates are the most prescribed treatment for reducing the pain but their long-term use has been associated with atypical fractures of cortical bones like femur in patients. We present a 23-year-old girl diagnosed with MAS. She had an atypical mid-shaft left femoral fracture that happened during simple walking. She also had a history of long-term use of alendronate. Because of the narrow medullary canal, we used 14 holes hybrid locking plate for the lateral aspect of the thigh to fix the fracture and 5 holes dynamic compression plate (instead of the intramedullary nail) in the anterior surface to double fix it, reducing the probability of device failure. With double plate fixation and discontinuation of alendronate, the complete union was achieved five months after surgery


2015 ◽  
Author(s):  
Damla Gokeen ◽  
Samim Ozen ◽  
Nurhan Ozcan ◽  
Sukran Darcan

2019 ◽  
Author(s):  
Nadezhda Makazan ◽  
Elizaveta Orlova ◽  
Maria Kareva ◽  
Anna Kolodkina ◽  
Natalia Kalinchenko ◽  
...  

2019 ◽  
Author(s):  
Terroba Larumbe Maria Concepcion ◽  
Soto Cristina Crespo ◽  
Palacio Mures Jose Maria ◽  
Garcia Manuel Acuna ◽  
Gonzalez Marcelino Mendo ◽  
...  

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