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
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
Merrill, Amy E., Sarukhanov, Anna, Krejci, Pavel, Idoni, Brian, Camacho, Natalia, Estrada, Kristine D., Lyons, Karen M., Deixler, Hannah, Robinson, Haynes, Chitayat, David, Curry, Cynthia J., Lachman, Ralph S., Wilcox, William R., Krakow, Deborah
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
Get full text
Journal Article