Spondylometaphyseal dysplasia: an uncommon disease
Author:
Affiliation:
1. WebImagem, Brazil
2. Brasil Imagem Medicina Diagnóstica, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Radiology, Nuclear Medicine and imaging
Link
http://www.scielo.br/pdf/rb/v50n1/0100-3984-rb-50-01-0063.pdf
Reference7 articles.
1. Kozlowski type spondylometaphyseal dysplasia a case report with literature review;Nural MS;Diagn Interv Radiol,2006
2. Smith's Recognizable patterns of human malformation;Jones KL,2006
3. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family);Nemec SF;Pediatr Radiol,2012
4. Axial spondylometaphyseal dysplasia additional reports;Suzuki S;Am J Med Genet A,2011
5. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia;Krakow D;Am J Hum Genet,2009
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