Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
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.
Published in American journal of human genetics (13.03.2009)
Published in American journal of human genetics (13.03.2009)
Get full text
Journal Article
Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues
Reinstein, Eyal, Okenfuss, Ericka B., Wadhawan, Isha, Wilnai, Yael, Manning, Melanie, Rimoin, David L., Lachman, Ralph S.
Published in Journal of applied genetics (01.05.2013)
Published in Journal of applied genetics (01.05.2013)
Get full text
Journal Article