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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. Revencu N, et al. Among authors: dallapiccola b. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Hum Mutat. 2008. PMID: 18446851 Free article.
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Among authors: dallapiccola b. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Clinical utility gene card for: Joubert syndrome.
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.49. Epub 2011 Mar 30. Eur J Hum Genet. 2011. PMID: 21448235 Free PMC article. No abstract available.
Clinical utility gene card for: Joubert syndrome--update 2013.
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403901 Free PMC article. No abstract available.
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group. Brancati F, et al. Among authors: dallapiccola b. Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. Hum Mutat. 2009. PMID: 19058225 Free PMC article.
981 results