Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

BACKGROUND: 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. OBJECTIVE: We sough...

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Bibliografiske detaljer
Udgivet i:J Clin Endocrinol Metab
Main Authors: Han, Joan C, Reyes-Capo, Daniela P, Liu, Chia-Ying, Reynolds, James C, Turkbey, Evrim, Turkbey, Ismail Baris, Bryant, Joy, Marshall, Jan D, Naggert, Jürgen K, Gahl, William A, Yanovski, Jack A, Gunay-Aygun, Meral
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2018
Fag:
Clinical Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6276679/
https://ncbi.nlm.nih.gov/pubmed/29718281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-00496
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