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A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Park S, Sohn YB, Chung IS, Hong JH, Jung EJ, Jeong SY, Jin HS

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of...
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Clinical characterization of a Korean case with 3p25 deletion

Lee HJ, Kim JH, Cho JH, Lee BH, Choi JH, Yoo HW

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the...
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Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10: the first case identified in Korea

Yoon SC, Lee HJ, Ko JM, Kang HG, Cheong HI, Yu HG, Kim JH

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning...
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A familial case with brachydactyly type C with a GDF5 mutation

Yeh HR, Lee BH, Kim JH, Cho JH, Kim GH, Kim JM, Choi IH, Yoo HW

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth...
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Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

Ko JM, Shin CH, Yang SW, Cheong HI, Song J

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been...
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Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

Park SH, Shim SH, Jung YW, Kim DH, Kang SJ, Park SO, Cha DH

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the...
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Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee JH, Kim DK

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is...
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Type 1 diabetes genetic susceptibility markers and their functional implications

Park Y

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by selective destruction of pancreatic beta-cells resulting in insulin deficiency. The genetic determinants of T1D susceptibility have been linked to...
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