Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Author:

Lindsey Spencer1,Brewer Carmen2ORCID,Stakhovskaya Olga2,Kim Hung Jeffrey12,Zalewski Chris2,Bryant Joy3,King Kelly A.2,Naggert Jürgen K.4,Gahl William A.356,Marshall Jan D.47,Gunay-Aygun Meral368

Affiliation:

1. Department of Otolaryngology-Head and Neck Surgery; Georgetown University Hospital; Washington, D.C.

2. Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders; National Institutes of Health; Bethesda Maryland

3. Medical Genetics Branch, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

4. The Jackson Laboratory; Bar Harbor Maine

5. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director; National Institutes of Health; Bethesda Maryland

6. Office of the Clinical Director, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

7. Alström Syndrome International; Bar Harbor Maine

8. Johns Hopkins University School of Medicine; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine; Baltimore Maryland

Funder

National Human Genome Research Institute

National Institute on Deafness and Other Communication Disorders

NIH Clinical Center

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-;Alström;Acta Psychiatrica Et Neurologica Scandinavica,1959

2. Alström syndrome: Current perspectives;Álvarez-Satta;The Application of Clinical Genetics,2015

3. Familial Alström syndrome: A rare cause of bilateral progressive hearing loss;Bahmad;Brazilian Journal of Otorhinolaryngology,2014

4. Brain involvement in Alström syndrome;Citton;Orphanet Journal of Rare Diseases,2013

5. Alström syndrome: Further evidence for linkage to human chromosome 2p13;Collin;Human Genetics,1999

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