Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype

Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndro...

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Detalles Bibliográficos
Autores principales: Catrinoiu, D, Mihai, C.M., Tuta, L, Stoicescu, R, Simpetru, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Carol Davila University Press 2009
Materias:
Case Presentations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051489/
https://www.ncbi.nlm.nih.gov/pubmed/20108498

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