Early detection of sensorineural hearing loss in Muckle-Wells-syndrome-Reference-Cited by-同舟云学术

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome

Published:2015-11-04 Issue:1 Volume:13 Page:
ISSN:1546-0096
Container-title:Pediatric Rheumatology
language:en
Short-container-title:Pediatr Rheumatol

Author:

Kuemmerle-Deschner Jasmin B.,Koitschev Assen,Tyrrell Pascal N.,Plontke Stefan K.,Deschner Norbert,Hansmann Sandra,Ummenhofer Katharina,Lohse Peter,Koitschev Christiane,Benseler Susanne M.

Funder

Novartis (CH)

Publisher

Springer Science and Business Media LLC

Subject

Immunology and Allergy,Rheumatology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12969-015-0041-9

Reference34 articles.

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2. Muckle TJ, Wells M. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med. 1962;31:235–48.

3. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301–5.

4. Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70(6):1498–506.

5. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71(1):198–203.

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