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8 results

A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M

  • J Genet Med.
  • 2019 Dec;16(2):85-89.
  • doi: 10.5734/JGM.2019.16.2.85
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier...
A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)

Kim SK, Jung SY, Bae SP, Kim J, Lee J, Lee DH

  • J Genet Med.
  • 2019 Dec;16(2):81-84.
  • doi: 10.5734/JGM.2019.16.2.81
Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially...
Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review

Park JE, Park JK, Kang MY, Jo HC, Cho IA, Baek JC

  • J Genet Med.
  • 2019 Dec;16(2):76-80.
  • doi: 10.5734/JGM.2019.16.2.76
About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal...
Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Kim YO, Lee YY, Kim MK, Woo YJ

  • J Genet Med.
  • 2019 Dec;16(2):71-75.
  • doi: 10.5734/JGM.2019.16.2.71
Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex...
A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

  • J Genet Med.
  • 2019 Dec;16(2):67-70.
  • doi: 10.5734/JGM.2019.16.2.67
Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD...
A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim J, Ko JM, Shin SH, Kim EK, Kim HS

  • J Genet Med.
  • 2019 Dec;16(2):62-66.
  • doi: 10.5734/JGM.2019.16.2.62
Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is...
Clinical and genetic characteristics of Korean patients with IARS2-related disorders

Lee JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Choi M, Seong MW, Chae JH

  • J Genet Med.
  • 2019 Dec;16(2):55-61.
  • doi: 10.5734/JGM.2019.16.2.55
PURPOSE: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first...
Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

  • J Genet Med.
  • 2019 Dec;16(2):49-54.
  • doi: 10.5734/JGM.2019.16.2.49
PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...

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