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Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
OBJECTIVES To investigate mutation spectrums and their correlations to phenotypes in Noonan syndrome (NS) and NS-related disorders that share functional alterations of the Ras-mitogen-activatedExpand
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Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
BACKGROUND Mass screening using tandem mass spectrometry(MS/MS) was initiated to determine if the incidence of metabolic disorder is sufficiently high to meet the criteria for newborn screening, andExpand
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Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease
  • Han-Wook Yoo
  • Medicine, Biology
  • Genetics in Medicine
  • 15 May 2001
Purpose: Wilson disease, an autosomal recessive disorder of copper transport, is probably the most common inherited metabolic disorder in Korea. In Wilson disease, synthesis of a defective copperExpand
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Endocrine dysfunctions in children with Williams-Beuren syndrome
Purpose Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvularExpand
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Development of SNP-based human identification system
Single nucleotide polymorphisms (SNPs) appeal to the forensic DNA community because of their abundance in the human genome, low mutation rate, small amplicon size, and feasibility of high-throughputExpand
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Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience
Purpose Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is classified as Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). This studyExpand
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Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
Purpose Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher diseaseExpand
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Short-Term Efficacy of Enzyme Replacement Therapy in Korean Patients with Fabry Disease
Fabrazyme has been widely used for treatment of Fabry disease since its approval by the U.S. Food and Drug Administration in 2003. This study was undertaken to assess the short-term efficacy andExpand
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Molecular cytogenetic and clinical characterization of a patient with a 5.6‐Mb deletion in 7p15 including HOXA cluster
Here, we describe the clinical features of a boy with a 5.6‐Mb deletion at chromosome 7p15.1–p15.3. He has mild facial anomalies, hand‐foot abnormalities, hypospadias, congenital heart defects, andExpand
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A Case of Campomelic Dysplasia without Sex Reversal
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38Expand
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