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8 results

A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Park S, Sohn YB, Chung IS, Hong JH, Jung EJ, Jeong SY, Jin HS

  • J Genet Med.
  • 2014 Jun;11(1):40-42.
  • doi: 10.5734/JGM.2014.11.1.40
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of...
Clinical characterization of a Korean case with 3p25 deletion

Lee HJ, Kim JH, Cho JH, Lee BH, Choi JH, Yoo HW

  • J Genet Med.
  • 2014 Jun;11(1):36-39.
  • doi: 10.5734/JGM.2014.11.1.36
Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the...
Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea

Yoon SC, Lee HJ, Ko JM, Kang HG, Cheong HI, Yu HG, Kim JH

  • J Genet Med.
  • 2014 Jun;11(1):31-35.
  • doi: 10.5734/JGM.2014.11.1.31
Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning...
A familial case with brachydactyly type C with a GDF5 mutation

Yeh HR, Lee BH, Kim JH, Cho JH, Kim GH, Kim JM, Choi IH, Yoo HW

  • J Genet Med.
  • 2014 Jun;11(1):27-30.
  • doi: 10.5734/JGM.2014.11.1.27
Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth...
Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

Ko JM, Shin CH, Yang SW, Cheong HI, Song J

  • J Genet Med.
  • 2014 Jun;11(1):22-26.
  • doi: 10.5734/JGM.2014.11.1.22
Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been...
Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

Park SH, Shim SH, Jung YW, Kim DH, Kang SJ, Park SO, Cha DH

  • J Genet Med.
  • 2014 Jun;11(1):16-21.
  • doi: 10.5734/JGM.2014.11.1.16
A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the...
Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee JH, Kim DK

  • J Genet Med.
  • 2014 Jun;11(1):11-15.
  • doi: 10.5734/JGM.2014.11.1.11
Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is...
Type 1 diabetes genetic susceptibility markers and their functional implications

Park Y

  • J Genet Med.
  • 2014 Jun;11(1):1-10.
  • doi: 10.5734/JGM.2014.11.1.1
Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by selective destruction of pancreatic beta-cells resulting in insulin deficiency. The genetic determinants of T1D susceptibility have been linked to...

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