Open AccessComprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls
Author(s) -
Joan C. Han,
Daniela P. Reyes-Capó,
ChiaYing Liu,
James C. Reynolds,
Evrim Türkbey,
Barış Türkbey,
Joy Bryant,
Jan D. Marshall,
Jürgen Κ. Naggert,
William A. Gahl,
Jack A. Yanovski,
Meral GunayAygun
Publication year - 2018
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2018-00496
Subject(s) - metabolic syndrome , obesity , endocrine system , medicine , endocrinology , dystrophy , cardiomyopathy , bioinformatics , hormone , biology , pathology , heart failure
Alström syndrome (AS), a monogenic form of obesity, is caused by recessive mutations in the centrosome- and basal body-associated gene ALMS1. AS is characterized by retinal dystrophy, sensory hearing loss, cardiomyopathy, childhood obesity, and metabolic derangements.
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