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Items: 8


A case of metatropic dysplasia: operative treatment of severe kyphoscoliosis and limb deformities.

Song HR, Sinha S, Song SH, Suh SW.

Oman Med J. 2013 Nov;28(6):445-7. doi: 10.5001/omj.2013.123.


Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH.

Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392.


Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.

Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.


Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

Fraser GR, Friedmann AI, Maroteaux P, Glen-Bott AM, Mittwoch U.

Arch Dis Child. 1969 Aug;44(236):490-8. No abstract available.


Some lethal and semilethal forms of disproportionate short stature.

Bailey JA 2nd.

J Natl Med Assoc. 1971 Sep;63(5):374-9. No abstract available.


Orthopaedic aspects of the chondrodystrophies. The dwarf and his orthopaedic problems.

Nelson MA.

Ann R Coll Surg Engl. 1970 Oct;47(4):185-210. Review. No abstract available.


The differential diagnosis of the short-limbed dwarfs presenting at birth.

Mukherji RN, Moss PD.

Postgrad Med J. 1977 Apr;53(618):204-11.


Morphologic studies in the skeletal dysplasias.

Sillence DO, Horton WA, Rimoin DL.

Am J Pathol. 1979 Sep;96(3):813-70.

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