Alström Syndrome: Mutation spectrum of ALMS1

Alström Syndrome, a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multi-system involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis and multiple organ fa...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4475486/
https://ncbi.nlm.nih.gov/pubmed/25846608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22796
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars