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10 results

Correction to: Clinical characterization of a Korean case with 3p25 deletion

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

  • J Genet Med.
  • 2014 Dec;11(2):91-91.
  • doi: 10.5734/JGM.2014.11.2.91
This correction is being published to correct the authors' names.
A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea

Oh MY, Kim JS, Kim JH, Cho JH, Lee BH, Kim GH, Choi JH, Yoo HW

  • J Genet Med.
  • 2014 Dec;11(2):86-90.
  • doi: 10.5734/JGM.2014.11.2.86
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations,...
Marfan syndrome and symptomatic dural ectasia: A case report and literature review

Eom SN, Kim DC, Kim KN, Kim SH

  • J Genet Med.
  • 2014 Dec;11(2):83-85.
  • doi: 10.5734/JGM.2014.11.2.83
Dural ectasia refers to the widening or ballooning of the dural sac surrounding the spinal cord. It can affect any plane of the spinal canal, but occurs primarily in the...
A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease

Lee D, Kim JH, Cho JH, Oh MY, Lee BH, Kim GH, Choi JH, Yoo HW

  • J Genet Med.
  • 2014 Dec;11(2):79-82.
  • doi: 10.5734/JGM.2014.11.2.79
Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or...
A case of Sotos syndrome presented with end-stage renal disease due to the posterior urethral valve

Cho WI, Ko JM, Kang HG, Ha IS, Cheong HI

  • J Genet Med.
  • 2014 Dec;11(2):74-78.
  • doi: 10.5734/JGM.2014.11.2.74
Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from...
Distribution of five common subtypes of spinocerebellar ataxia in the Korean population

Choi IH, Kim GH, Lee BH, Choi JH, Yoo HW

  • J Genet Med.
  • 2014 Dec;11(2):69-73.
  • doi: 10.5734/JGM.2014.11.2.69
PURPOSE: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more...
Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population

Kim H, Lim HS, Ryu JS, Kim HC, Lee S, Kim YT, Kim YJ, Lee KR, Park HJ, Han SH

  • J Genet Med.
  • 2014 Dec;11(2):63-68.
  • doi: 10.5734/JGM.2014.11.2.63
PURPOSE: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal...
Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography

Park JE, Park JK, Cho IA, Baek JC, Kang MY, Lee JI, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY

  • J Genet Med.
  • 2014 Dec;11(2):56-62.
  • doi: 10.5734/JGM.2014.11.2.56
PURPOSE: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. MATERIALS AND METHODS: We retrospectively reviewed the medical records of...
Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

Hong SY

  • J Genet Med.
  • 2014 Dec;11(2):49-55.
  • doi: 10.5734/JGM.2014.11.2.49
Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic...
Chorionic villus sampling

Shim SS

  • J Genet Med.
  • 2014 Dec;11(2):43-48.
  • doi: 10.5734/JGM.2014.11.2.43
Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective...

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