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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Main Authors: Mihai, Cristina Maria, Catrinoiu, Doina, Toringhibel, Marius, Stoicescu, Ramona Mihaela, Ticuta, Negreanu-Pirjol, Anca, Hancu
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2009
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2648950/
https://ncbi.nlm.nih.gov/pubmed/19128470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1757-1626-2-19
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