- Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes
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Seo GH, Kim YM, Ghang B, Kim GH, Lee BH
- KMID: 2451627
- J Genet Med.
- 2019 Jun;16(1):43-47.
- doi: 10.5734/JGM.2019.16.1.43
Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with... -
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- An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
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Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH
- KMID: 2451626
- J Genet Med.
- 2019 Jun;16(1):39-42.
- doi: 10.5734/JGM.2019.16.1.39
KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The... -
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- Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report
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Song WJ, Lee YJ, Kang JW, Chang MY, Song KS, Kang DY, Kim SZ
- KMID: 2451625
- J Genet Med.
- 2019 Jun;16(1):31-38.
- doi: 10.5734/JGM.2019.16.1.31
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet... -
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- Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
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Lee D, Jang JH, Lee CG
- KMID: 2451624
- J Genet Med.
- 2019 Jun;16(1):27-30.
- doi: 10.5734/JGM.2019.16.1.27
Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It... -
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- First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss
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Han SH, Seo JJ, Kim ES, Ryu JS, Hong SH, Hwang SY
- KMID: 2451623
- J Genet Med.
- 2019 Jun;16(1):23-26.
- doi: 10.5734/JGM.2019.16.1.23
Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is... -
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- A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)
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Park BM, Kim YO, Kim MK, Woo YJ
- KMID: 2451622
- J Genet Med.
- 2019 Jun;16(1):19-22.
- doi: 10.5734/JGM.2019.16.1.19
The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual... -
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- Concurrent SHORT syndrome and 3q duplication syndrome
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Boaz AM, Grasso SA, DeRogatis , Beesley EN
- KMID: 2451621
- J Genet Med.
- 2019 Jun;16(1):15-18.
- doi: 10.5734/JGM.2019.16.1.15
SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome:... -
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- Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities
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Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA
- KMID: 2451620
- J Genet Med.
- 2019 Jun;16(1):10-14.
- doi: 10.5734/JGM.2019.16.1.10
PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI... -
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- Noonan syndrome and RASopathies: Clinical features, diagnosis and management
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Lee BH, Yoo HW
- KMID: 2451619
- J Genet Med.
- 2019 Jun;16(1):1-9.
- doi: 10.5734/JGM.2019.16.1.1
Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and... -
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