Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe-Reference-Cited by-同舟云学术

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Published:2013-10-16 Issue:6 Volume:22 Page:726-733
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Graul-Neumann Luitgard M,Deichsel Alexandra,Wille Ulrike,Kakar Naseebullah,Koll Randi,Bassir Christian,Ahmad Jamil,Cormier-Daire Valerie,Mundlos Stefan,Kubisch Christian,Borck Guntram^ORCID,Klopocki Eva,Mueller Thomas D,Doelken Sandra C,Seemann Petra

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013222.pdf

Reference37 articles.

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2. Warman ML, Cormier-Daire V, Hall C et al: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 2011; 155A: 943–968.

3. Nickel J, Kotzsch A, Sebald W, Mueller TD : A single residue of GDF-5 defines binding specificity to BMP receptor IB. J Mol Biol 2005; 349: 933–947.

4. Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS : Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. Am J Med Genet Part A 2003; 121A: 9–14.

5. Basit S, Naqvi SK, Wasif N, Ali G, Ansar M, Ahmad W : A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family. BMC Med Genet 2008; 9: 102.

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