Clinical and genetic characterization of Italian patients affected by CINCA syndrome | Zendy

Francesco Caroli | Zendy; Alessandra Pontillo | Zendy; Andrea D’Osualdo | Zendy; Laura Travan | Zendy; Isabella Ceccherini | Zendy; Sérgio Crovella | Zendy; Maria Alessio | Zendy; Achille Stabile | Zendy; Marco Gattorno | Zendy; Alberto Tommasini | Zendy; Alberto Martini | Zendy; Loredana Lepore | Zendy

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Clinical and genetic characterization of Italian patients affected by CINCA syndrome

Author(s) -

Francesco Caroli,

Alessandra Pontillo,

Andrea D’Osualdo,

Laura Travan,

Isabella Ceccherini,

Sérgio Crovella,

Maria Alessio,

Achille Stabile,

Marco Gattorno,

Alberto Tommasini,

Alberto Martini,

Loredana Lepore

Publication year - 2006

Publication title -

lara d. veeken

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.957

H-Index - 173

eISSN - 1462-0332

pISSN - 1462-0324

DOI - 10.1093/rheumatology/kel269

Subject(s) - medicine , disease , dermatology , pediatrics

We report the experience of the Italian Registry of patients affected by chronic infantile neurological, cutaneous, articular (CINCA) syndrome. The clinical and genetic features of 12 unrelated Italian patients with CINCA syndrome are described, focusing on the possible influence of the presence of CIAS1/cryopyrin mutations on the phenotype of the disease and on its prognosis.

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