- Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
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Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH
- KMID: 1792968
- J Korean Med Sci.
- 2010 Jul;25(7):1105-1108.
- doi: 10.3346/jkms.2010.25.7.1105
Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors... -
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- Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
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Kang SS, Shin SH, Auh CK, Chun J
- KMID: 1402315
- Exp Mol Med.
- 2012 Dec;44(12):707-722.
The transient receptor potential vanilloid 4 (TRPV4) cation channel, a member of the TRP vanilloid subfamily, is expressed in a broad range of tissues where it participates in the generation... -
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- X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
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Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY
- KMID: 1381692
- Ann Lab Med.
- 2012 May;32(3):234-237.
- doi: 10.3343/alm.2012.32.3.234
Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development... -
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- Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
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Jeon GW, Lee MN, Jung JM, Hong SY, Kim YN, Sin JB, Ki CS
- KMID: 1791906
- Ann Lab Med.
- 2014 Mar;34(2):134-138.
- doi: 10.3343/alm.2014.34.2.134
BACKGROUND: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the... -
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