Article
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
American journal of human genetics - 1 Mar 2009
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
Abstract excerpt
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 abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles similar to autosomal-dominant...
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