Consensus clinical management guidelines for Alstr öm syndrome

Alstr öm Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...

Source: Orphanet Journal of Rare Diseases - September 21, 2020 Category: Internal Medicine Authors: Natascia Tahani, Pietro Maffei, H élène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Tags: Position statement Source Type: research