A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature-Reference-Cited by-同舟云学术

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A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

Published:2015-04-30 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Frosk Patrick, ,Chodirker Bernard,Simard Louise,El-Matary Wael,Hanlon-Dearman Ana,Schwartzentruber Jeremy,Majewski Jacek,Rockman-Greenberg Cheryl

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0175-0/fulltext.html

Reference14 articles.

1. Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, et al. Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet. 2002;112(4):412–21.

2. Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009;41(12):1272–4.

3. Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014;133(9):1161–7.

4. Hogan BM, Bos FL, Bussmann J, Witte M, Chi NC, Duckers HJ, et al. Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. Nat Genet. 2009;41(4):396–8.

5. Bos FL, Caunt M, Peterson-Maduro J, Planas-Paz L, Kowalski J, Karpanen T, et al. CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo. Circ Res. 2011;109(5):486–91.

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