Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

Alstrom’s syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It’s a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes melli...

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Enregistré dans:
Détails bibliographiques
Publié dans:Indian J Clin Biochem
Auteurs principaux: Ahmad, Afzal, D’Souza, Benedicta, Yadav, Charu, Agarwal, Ashish, Kumar, Anand, Nandini, M., D’Souza, Vivian, Poornima, A. M., Kamath, Nutan
Format: Artigo
Langue:Inglês
Publié: Springer India 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4992483/
https://ncbi.nlm.nih.gov/pubmed/27605748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12291-015-0543-8
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