Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1-Reference-Cited by-同舟云学术

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

Published:2015-03-11 Issue:12 Volume:23 Page:1640-1645
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Racacho Lemuel,Byrnes Ashley M,MacDonald Heather^ORCID,Dranse Helen J,Nikkel Sarah M,Allanson Judith,Rosser Elisabeth,Underhill T Michael,Bulman Dennis E

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201538.pdf

Reference53 articles.

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3. Byrnes AM, Racacho L, Grimsey A et al: Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. Eur J Hum Gen 2009; 17: 1112–1120.

4. Ploger F, Seemann P, Schmidt-von Kegler M et al: Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum Mol Genet 2008; 17: 1222–1233.

5. Seemann P, Schwappacher R, Kjaer KW et al: Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 2005; 115: 2373–2381.

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