CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort
about
Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.Inherited disorders of renal hypomagnesaemia.Kartogenin, transforming growth factor-β1 and bone morphogenetic protein-7 coordinately enhance lubricin accumulation in bone-derived mesenchymal stem cells.Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
CACP syndrome: identification ...... in the largest European cohort
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CACP syndrome: identification ...... n the largest European cohort.
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type
label
CACP syndrome: identification ...... in the largest European cohort
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CACP syndrome: identification ...... n the largest European cohort.
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CACP syndrome: identification ...... in the largest European cohort
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CACP syndrome: identification ...... n the largest European cohort.
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P2093
P2860
P356
P1476
CACP syndrome: identification ...... in the largest European cohort
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P2093
Angelo Ravelli
Anuela Kondi
Eleonora Gambineri
Fernanda Falcini
Lucia Bianchi
Luciana Breda
Maria Alessio
Marina Vignoli
Rebecca Ten Cate
Sara Ciullini Mannurita
P2860
P2888
P304
P356
10.1038/EJHG.2013.123
P577
2013-06-12T00:00:00Z
P5875
P6179
1015105001