Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome (Articolo in rivista)

Type
Label
  • Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Alternative label
  • Uzunalic N, Zenciroglu A, Beken S, Piras R, Dilli D, Aydin B, Chiappe F, Okumus N, Crisponi L. (2013)
    Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome
    in Genetic counseling
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Uzunalic N, Zenciroglu A, Beken S, Piras R, Dilli D, Aydin B, Chiappe F, Okumus N, Crisponi L. (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • (1) Department of Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey. (2) Istituto di Ricerca Genetica e Biomedica Consiglio Nazionale delle Ricerche Cittadella Universitaria di Monserrato, Monserrato (CA)Italy. (3) Universit√† degli Studi di Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Cagliari, Italy. (literal)
Titolo
  • Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome (literal)
Abstract
  • Summary: Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new mutation in the CRLF1 gene associated with moderate clinical phenotype (literal)
Prodotto di
Autore CNR

Incoming links:


Prodotto
Autore CNR di
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
data.CNR.it