Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5)...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Dathe, Katarina, Kjaer, Klaus W., Brehm, Anja, Meinecke, Peter, Nürnberg, Peter, Neto, Jordao C., Brunoni, Decio, Tommerup, Nils, Ott, Claus E., Klopocki, Eva, Seemann, Petra, Mundlos, Stefan
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2009
Materias:
Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667973/
https://ncbi.nlm.nih.gov/pubmed/19327734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.001
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares