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The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

Lee ES, Ko JM, Moon JS

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS...
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Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Kim YA, Kim JY, Kim YM, Cheon CK

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal...
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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

Kim D, Kim YM, Seo GH, Kim GH, Yoo HW, Yum MS, Ko TS, Lee BH

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a...
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A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

Algahtani , Shirah B

Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy,...
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Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature

Yang SD, Lee SJ, Lee DH, Hong YH

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain...
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Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Park SY, Ryu HM, Lee SW

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16...
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Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

Kim HJ, Seo GH, Kim YM, Kim GH, Seo EJ, Ra YS, Choi JH, Yoo HW, Lee BH

PURPOSE: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene....
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Biomarkers and genetic factors for early prediction of pre-eclampsia

Kim H, Shim SS

Pre-eclampsia is known to cause considerable maternal morbidity and mortality. Thus, many studies have examined the etiopathogenesis of pre-eclampsia. While many pathophysiological factors related to pre-eclampsia have been identified, the...
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