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Acromegaloid Facial Appearance Syndrome: A New Case in India

Rai A, Sattur AP, Naikmasur

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies,...
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Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

Lee CG, Yun JN, Park SJ, Sohn YB

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method...
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Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report

Lee YJ, Yum MS, Kim EH, Choi HW, Lee BH, Yoo HW, Ko TS

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a...
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An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation

Shin SJ, Kim JH, Kim YM, Kim GH, Lee BH, Yoo HW

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused...
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Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases

Kwak DW, Kim HJ, Park SY, Ahn HS, Chae YH, Kim MY, Lee YH, Ryu HM

PURPOSE: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to...
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Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1

Yum MS, Lee BH, Kim GH, Lee JJ, Choi SH, Lee JY, Kim JM, Kim YM, Ko TS, Yoo HW

PURPOSE: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of...
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Bioinformatics Approaches for the Identification and Annotation of RNA Editing Sites

Lee SY, Kim JH

Post-transcriptional nucleotide sequence modification of transcripts by RNA editing is an important molecular mechanism in the regulation of protein function and is associated with a variety of human disease phenotypes....
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Genetics of Mitochondrial Myopathies

Shin JH, Kim DS

Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with...
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Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation

Yoon CK, Yu HG

Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by...
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Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation

Lee YK, Lee DH, Noh JW

Familial Juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disorder, characterized by early onset of hyperuricemia, gout and progressive kidney disease. Hyperuricemia prior to renal impairment and decreased fractional...
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Chronic Granulomatous Disease on Jeju Island, Korea

Cho M, Shin KS

Chronic granulomatous disease (CGD) is a rare inherited disorder of a defective NADPH oxidase enzyme, resulting in very low or no production of superoxide and subsequent reactive oxygen species. Consequently,...
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