Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein invo...

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Main Authors: Merrill, Amy E., Merriman, Barry, Farrington-Rock, Claire, Camacho, Natalia, Sebald, Eiman T., Funari, Vincent A., Schibler, Matthew J., Firestein, Marc H., Cohn, Zachary A., Priore, Mary Ann, Thompson, Alicia K., Rimoin, David L., Nelson, Stanley F., Cohn, Daniel H., Krakow, Deborah
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667993/
https://ncbi.nlm.nih.gov/pubmed/19361615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.015
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