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Musculoskeletal system (Genetic diseases)
LE WE PMID CA
Musculoskeletal system (Genetic diseases)7144Bewegungsapparat (genetische Erkrankungen)

Brachyolmia

Enzyclopedical

Metatropic dysplasia

Musculoskeletal system (Genetic diseases)

Nervous system (Inherited diseases)

Spondylometaphyseal dysplasia Kozlowski type

Sprengel s deformity

TRPV4

2011  
1
Nosology and classification of genetic skeletal disorders: 2010 revision.
[21438135] Am J Med Genet A 155A(5): 943-68 (2011)
2012  
2
2010  
3
TRPV4-pathy, a novel channelopathy affecting diverse systems.
[20505684] J Hum Genet 55(7): 400-2 (2010)
2011  
4
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)
2011  
5
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.
[21573172] PLoS One 6(5): e19533 (2011)
2012  
6
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).
[21863289] Pediatr Radiol 42(1): 15-23 (2012)
2011  
7
Sprengel's deformity of the shoulder: Current perspectives in management.
[21660191] Int J Shoulder Surg 5(1): 1-8 (2011)
2010  
8
Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.
[20508815] J Biomed Biotechnol 2010(-): 686457 (2010)

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