Results 1 -
4
of
4
for
Spondylometaphyseal dysplasia -Sutcliffe type
- ... with TRPV4 gene mutations include autosomal dominant brachyolmia; spondylometaphyseal dysplasia, Kozlowski type; spondyloepiphyseal dysplasia, Maroteaux type; and parastremmatic dysplasia. These ...
- ... type SMED, type I Spondylometaepiphyseal dysplasia congenita, Strudwick type Spondylometaphyseal dysplasia (SMD) Strudwick syndrome Genetic Testing Registry: Spondyloepimetaphyseal dysplasia, ...
- ... encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 ...
- ... causes a bone dysplasia with autoimmunity and a type I interferon expression ... autoimmunity, and spondylometaphyseal dysplasia. Am J Med Genet A. 2007 Jan 1; ...