CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort-Reference-Cited by-同舟云学术

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort

Published:2013-06-12 Issue:2 Volume:22 Page:197-201
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ciullini Mannurita Sara,Vignoli Marina,Bianchi Lucia,Kondi Anuela,Gerloni Valeria,Breda Luciana,ten Cate Rebecca,Alessio Maria,Ravelli Angelo,Falcini Fernanda,Gambineri Eleonora

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013123.pdf

Reference23 articles.

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2. Martinez-Lavin M, Buendia A, Delgado E et al: A familial syndrome of pericarditis, arthritis, and camptodactyly. New Engl J Med 1983; 309: 224–225.

3. Bulutlar G, Yazici H, Ozdogan H, Schreuder I : A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. Arthritis Rheum 1986; 29: 436–438.

4. Marcelino J, Carpten JD, Suwairi WM et al: CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 1999; 23: 319–322.

5. Ikegawa S, Sano M, Koshizuka Y, Nakamura Y : Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes. Cytogenet Cell Genet 2000; 90: 291–297.

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