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Brachyolmia
LE WE PMID CA
Brachyolmia11718Brachyolmia

Brachyolmia

Charcot Marie Tooth disease type 2C

Metatropic dysplasia

Musculoskeletal system (Genetic diseases)

PAPSS2

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)
2010  
2
2012  
3
PAPSS2 mutations cause autosomal recessive brachyolmia.
[22791835] J Med Genet 49(8): 533-8 (2012)
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)
2008  
5
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
[18587396] Nat Genet 40(8): 999-1003 (2008)

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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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