Consensus clinical management guidelines for Alström syndrome

Alström 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 characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity,...

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Detalles Bibliográficos
Autores principales: Tahani, Natascia, Maffei, Pietro, Dollfus, Hélène, Paisey, Richard, Valverde, Diana, Milan, Gabriella, Han, Joan C., Favaretto, Francesca, Madathil, Shyam C., Dawson, Charlotte, Armstrong, Matthew J., Warfield, Adrian T., Düzenli, Selma, Francomano, Clair A., Gunay-Aygun, Meral, Dassie, Francesca, Marion, Vincent, Valenti, Marina, Leeson-Beevers, Kerry, Chivers, Ann, Steeds, Richard, Barrett, Timothy, Geberhiwot, Tarekegn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7504843/
https://www.ncbi.nlm.nih.gov/pubmed/32958032
http://dx.doi.org/10.1186/s13023-020-01468-8

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