[HTML][HTML] Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

MK Javaid, A Boyce, N Appelman-Dijkstra… - Orphanet journal of rare …, 2019 - Springer
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 …

[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 …

[HTML][HTML] Fibrous dysplasia/mccune-albright syndrome

AM Boyce, P Florenzano, LF de Castro, MT Collins - 2019 - europepmc.org
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS), the result of an early embryonic
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 …

Fibrous dysplasia of bone and McCune–Albright syndrome: a bench to bedside review

I Hartley, M Zhadina, MT Collins, AM Boyce - Calcified tissue international, 2019 - Springer
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 …

[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 …

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 …

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 …

Fibrous dysplasia of bone: craniofacial and dental implications

AB Burke, MT Collins, AM Boyce - Oral diseases, 2017 - Wiley Online Library
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 …

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 …