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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Med Life
Main Authors: Catrinoiu, D, Mihai, C.M., Tuta, L, Stoicescu, R, Simpetru, A
Format: Artigo
Sprog:Inglês
Udgivet: Carol Davila University Press 2009
Fag:
Case Presentations
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5051489/
https://ncbi.nlm.nih.gov/pubmed/20108498
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker