Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome-Reference-Cited by-同舟云学术

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Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

Published:2014-11-30 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Seifert Wenke,Meinecke Peter,Krüger Gabriele,Rossier Eva,Heinritz Wolfram,Wüsthof Achim,Horn Denise

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0127-0/fulltext.html

Reference9 articles.

1. Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Canada Consortium FORGE, Majewski J, Bulman DE, White SM, Boycott KM: Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012, 90 (2): 308-313. 10.1016/j.ajhg.2011.12.001.

2. Reschen M, Kini U, Hood RL, Boycott KM, Hurst J, O'Callaghan CA: Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. Am J Med Genet A. 2012, 158A (12): 3196-3200. 10.1002/ajmg.a.35635.

3. Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V: Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat. 2013, 34 (1): 88-92. 10.1002/humu.22216.

4. Nikkel SM, Dauber A, De Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, Da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, et al: The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013, 8 (1): 63-10.1186/1750-1172-8-63.

5. Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, Tzschach A: Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet. 2014, 85 (5): 498-499. 10.1111/cge.12199.

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