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Gene Review

CRELD1  -  cysteine-rich with EGF-like domains 1

Homo sapiens

Synonyms: AVSD2, CIRRIN, Cysteine-rich with EGF-like domain protein 1, UNQ188/PRO214
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Disease relevance of CRELD1

  • CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome [1].

High impact information on CRELD1


  1. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Maslen, C.L., Babcock, D., Robinson, S.W., Bean, L.J., Dooley, K.J., Willour, V.L., Sherman, S.L. Am. J. Med. Genet. A (2006) [Pubmed]
  2. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Robinson, S.W., Morris, C.D., Goldmuntz, E., Reller, M.D., Jones, M.A., Steiner, R.D., Maslen, C.L. Am. J. Hum. Genet. (2003) [Pubmed]
  3. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Rupp, P.A., Fouad, G.T., Egelston, C.A., Reifsteck, C.A., Olson, S.B., Knosp, W.M., Glanville, R.W., Thornburg, K.L., Robinson, S.W., Maslen, C.L. Gene (2002) [Pubmed]
  4. CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects. Sarkozy, A., Esposito, G., Conti, E., Digilio, M.C., Marino, B., Calabrò, R., Pizzuti, A., Dallapiccola, B. Am. J. Med. Genet. A (2005) [Pubmed]
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