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Spondylometaphyseal dysplasia Kozlowski type
LE WE PMID CA
Spondylometaphyseal dysplasia Kozlowski type11717Spondylometaphyseal dysplasia Kozlowski type

Brachyolmia

Metatropic dysplasia

Musculoskeletal system (Genetic diseases)

Spondylometaphyseal dysplasia Kozlowski type

TRPV4

2009  
1
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
[19232556] Am J Hum Genet 84(3): 307-15 (2009)
2011  
2
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
[21658220] Orphanet J Rare Dis 6(): 37 (2011)
2006  
3
Kozlowski type spondylometaphyseal dysplasia: a case report with literature review.
[16752352] Diagn Interv Radiol 12(2): 70-3 (2006)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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