Auditory and Otologic Profile of Alström Syndrome: Comprehensive Single Center Data on 38 Patients

Alström syndrome is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize...

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Gepubliceerd in:Am J Med Genet A
Hoofdauteurs: Lindsey, Spencer, Brewer, Carmen, Stakhovskaya, Olga, Kim, H Jeffrey, Zalewski, Chris, Bryant, Joy, King, Kelly A., Naggert, Jürgen K., Gahl, William A, Marshall, Jan D., Gunay-Aygun, Meral
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2017
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5526054/
https://ncbi.nlm.nih.gov/pubmed/28573831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38316
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