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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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Elsevier 2009
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Accès en ligne: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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