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Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee D, Jang JH, Lee CG

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 identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Commentary on “Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea”

Park SM, Kim BS, Kim MB, Ko HC

No abstract available.
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Thick Corpus Callosum in Children

Schupper A, Konen O, Halevy A, Cohen R, Aharoni S, Shuper A

BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS:...
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Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report

Lee SH, Ryoo E, Tchah H

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas,...
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A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22

Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in...
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Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations

Jang JH, Ko JM, Yang SW, Chae JH, Bae EJ

Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects....
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Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the...
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Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report

Kim SW, Kim J, Jeon HR, Park MJ, Kim Y

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and...
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US and CT findings of hydranencephaly

Kim JP, Cha KS, Ryu KN, Lee SH, Lee KW, Cho KS

Hydranencephaly is congenital disorder involving total or near-total absence of cerebrum, but with intactmeninges and cranial vault. CT offered a unique diagnostic tool for the evaluation of these infants, but...
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