Associated Papers
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
Hanaki K et al.
Yonago Acta Medica, 2024
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I et al.
European Journal of Human Genetics : Ejhg, 2011
Alström syndrome: insights into the pathogenesis of metabolic disorders.
Girard D et al.
Nature Reviews. Endocrinology, 2011
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.
Hearn T et al.
Nature Genetics, 2002
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