Dominant missense mutations in ABCC9 cause Cantú syndrome-Reference-Cited by-同舟云学术

Dominant missense mutations in ABCC9 cause Cantú syndrome

Published:2012-05-18 Issue:7 Volume:44 Page:793-796
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Harakalova Magdalena,van Harssel Jeske J T,Terhal Paulien A,van Lieshout Stef,Duran Karen,Renkens Ivo,Amor David J,Wilson Louise C,Kirk Edwin P,Turner Claire L S,Shears Debbie,Garcia-Minaur Sixto,Lees Melissa M,Ross Alison,Venselaar Hanka,Vriend Gert,Takanari Hiroki,Rook Martin B,van der Heyden Marcel A G,Asselbergs Folkert W,Breur Hans M,Swinkels Marielle E,Scurr Ingrid J,Smithson Sarah F,Knoers Nine V,van der Smagt Jasper J,Nijman Isaac J,Kloosterman Wigard P,van Haelst Mieke M,van Haaften Gijs,Cuppen Edwin

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2324.pdf

Reference28 articles.

1. Cantú, J.M., Garcia-Cruz, D., Sanchez-Corona, J., Hernandez, A. & Nazara, Z. A distinct osteochondrodysplasia with hypertrichosis—individualization of a probable autosomal recessive entity. Hum. Genet. 60, 36–41 (1982).

2. Garcia-Cruz, D. et al. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome. Am. J. Med. Genet. 69, 138–151 (1997).

3. Nevin, N.C., Mulholland, H.C. & Thomas, P.S. Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia. Am. J. Med. Genet. 66, 33–38 (1996).

4. Rosser, E.M. et al. Three patients with the osteochondrodysplasia and hypertrichosis syndrome—Cantú syndrome. Clin. Dysmorphol. 7, 79–85 (1998).

5. Robertson, S.P. et al. Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am. J. Med. Genet. 85, 395–402 (1999).

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