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...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2015
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Article
Online Zugang: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
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