Results 181 to 190 of about 2,862 (212)
Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype.
, 2010 Doina Catrinoiu +4 more
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Expression Quantitative Trait Loci for ALMS1 and Their Influence on the Symptoms of Alstrom Syndrome
, 2019 Chaeyoung Lee
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Alström syndrome: a paradigm for diffuse fibrosis and clinical progression
Journal of Cardiovascular Magnetic Resonance, 2013 Edwards Nicola C +6 more
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Minor variant of alstrom syndrome : report of a case presenting with a perinephric abscess
, 1996 G Prabhu +5 more
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Alstrom's Syndrome: An Experience of Tertiary Care Center
Journal of Pediatric Genetics, 2021AbstractAlstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic
Ghadah, Gosadi +2 more
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Alstrom syndrome—a diagnostic dilemma
International Journal of Diabetes in Developing Countries, 2016Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India.
Rukmini M S +3 more
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