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Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series

BACKGROUND: Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel-Grube...

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Detalles Bibliográficos
Autores principales: Mihai, Cristina Maria, Catrinoiu, Doina, Toringhibel, Marius, Stoicescu, Ramona Mihaela, Ticuta, Negreanu-Pirjol, Anca, Hancu
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648950/
https://www.ncbi.nlm.nih.gov/pubmed/19128470
http://dx.doi.org/10.1186/1757-1626-2-19