A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

BACKGROUND: Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia....

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Detalles Bibliográficos
Autores principales: Basit, Sulman, Naqvi, Syed Kamran-ul-Hassan, Wasif, Naveed, Ali, Ghazanfar, Ansar, Muhammad, Ahmad, Wasim
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2611973/
https://www.ncbi.nlm.nih.gov/pubmed/19038017
http://dx.doi.org/10.1186/1471-2350-9-102

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