[HTML][HTML] Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
Abstract Fibrous Dysplasia/McCune Albright syndrome (FD/MAS) represents a wide
spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The …
spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The …
[HTML][HTML] Clinical guidelines for the management of craniofacial fibrous dysplasia
JS Lee, EJ FitzGibbon, YR Chen, HJ Kim… - Orphanet journal of rare …, 2012 - Springer
Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating
mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of …
mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of …
[HTML][HTML] Fibrous dysplasia/mccune-albright syndrome
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), the result of an early embryonic
postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway …
postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway …
[HTML][HTML] McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia
MT Collins, FR Singer, E Eugster - Orphanet journal of rare diseases, 2012 - Springer
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can
include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such …
include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such …
Fibrous dysplasia of bone and McCune–Albright syndrome: a bench to bedside review
Fibrous dysplasia is an uncommon mosaic disorder in which bone is replaced by structurally
unsound fibro-osseous tissue. It is caused by the sporadic post-zygotic activating mutations …
unsound fibro-osseous tissue. It is caused by the sporadic post-zygotic activating mutations …
[PDF][PDF] Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation
AM Boyce, MT Collins - Endocrine reviews, 2020 - academic.oup.com
Abstract Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder of
striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to …
striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to …
The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases
SE Lee, EH Lee, H Park, JY Sung, HW Lee, SY Kang… - Human pathology, 2012 - Elsevier
GNAS mutations have been implicated in the development of fibrous dysplasia and multiple
endocrinopathies of the Albright-McCune syndrome. To investigate the diagnostic utility of …
endocrinopathies of the Albright-McCune syndrome. To investigate the diagnostic utility of …
Fibrous dysplasia/McCune-Albright syndrome: clinical and translational perspectives
C Robinson, MT Collins, AM Boyce - Current osteoporosis reports, 2016 - Springer
Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in
fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic …
fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic …
Fibrous dysplasia of bone: craniofacial and dental implications
Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating
mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and …
mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and …
Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological, and histopathological features
TSF Pereira, CC Gomes, PA Brennan… - Journal of Oral …, 2019 - Wiley Online Library
Fibrous dysplasia is a non‐neoplastic developmental process that affects the craniofacial
bones, characterized by painless enlargement as a result of bone substitution by abnormal …
bones, characterized by painless enlargement as a result of bone substitution by abnormal …
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