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)

Downloaded from http://www.kidney.de - The Database of Free Medical Reviews - The Metatextbook of Medicine - Ossip Groth

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



  • Brachyolmia

  • The BDOM Bibliographic Dictionary of Medicine is a curated collection of free medical articles tagged to concepts.
    Contents until 2011 are reviews from PubMed, contents flagged 'PMC' are regular articles from PubMed Central.
    Search BDOM
    Nephrology Collection
    Radiology Locator

    PubMedCentral monthly collection of free medical articles by major subject

    The framed wikipedia articles are from en.wikipedia.org and they are the actual versions; the first is from Nephropedia