- A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family
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Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M
- KMID: 2470104
- 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... -
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- A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
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Kim SK, Jung SY, Bae SP, Kim J, Lee J, Lee DH
- KMID: 2470103
- 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... -
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- Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
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Park JE, Park JK, Kang MY, Jo HC, Cho IA, Baek JC
- KMID: 2470102
- 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... -
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- Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2
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Kim YO, Lee YY, Kim MK, Woo YJ
- KMID: 2470101
- 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... -
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- A familial case of limb-girdle muscular dystrophy with CAV3 mutation
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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
- KMID: 2470100
- 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... -
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- A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
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Kim J, Ko JM, Shin SH, Kim EK, Kim HS
- KMID: 2470099
- 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... -
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- Clinical and genetic characteristics of Korean patients with IARS2-related disorders
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Lee JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Choi M, Seong MW, Chae JH
- KMID: 2470098
- 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... -
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- Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure
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Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW
- KMID: 2470097
- 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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