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Neonatal McCune–Albright syndrome with systemic involvement: a case report

INTRODUCTION: McCune–Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune–Albright syndrome is caused by somatic postzygotic activating mutations in the GNAS gene that produce a broad spect...

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Detalhes bibliográficos
Publicado no:J Med Case Rep
Main Authors: Lourenço, Rita, Dias, Patrícia, Gouveia, Raquel, Sousa, Ana Berta, Oliveira, Graça
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560899/
https://ncbi.nlm.nih.gov/pubmed/26341786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-015-0689-2
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