Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterized by significant scoliosis and mild metaphyseal abn...

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Autori principali: Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Human Genetics 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667978/
https://ncbi.nlm.nih.gov/pubmed/19232556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.01.021
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