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Myotonic dystrophy diagnosed during the perinatal period: A case series report

Shin YJ, Kim DJ, Park SY, Chung JH, Lee YK, Ryu HM

Congenital myotonic dystrophy (CMD) which is transmitted in an autosomal-dominant manner, can also be observed in newborns born to asymptomatic parents who have a myotonic dystrophy type 1 or premutation...
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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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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a...
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The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia

Choe DK, Oh JW, Jun JK, Choi YM

PURPOSE: Molecular genetic analysis is the main approach used for prenatal diagnosis of hemophilia A and B. However, in certain cases, such analysis is uninformative. In such situations, direct measurement...
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Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature

Lee BY, Lee SY, Lee YW, Kim SY, Kim JW, Ryu HM, Lee JS, Park SY, Seo JT

PURPOSE: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex...
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Substrate reduction therapy in three patients with Gaucher disease

Kim SH, Kang E, Kim YM, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH

PURPOSE: Gaucher disease (GD) is the most common lysosomal storage disease caused by beta-glucocerebrosidase (GBA) deficiency. Oral substrate reduction therapy with miglustat (Zavesca®) was approved for the treatment of adults...
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An overview of current knowledge about cell-free RNA in amniotic fluid

Jung YW, Shin YJ, Shim SH, Cha DH

Cell-free nucleic acids (cf-NAs) originate in trophoblasts and are detected in the maternal plasma. Using innovative bioinformatic technologies such as next-generation sequencing, cf-NAs in the maternal plasma have been rapidly...
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Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures

Sohn YB, Yoo HW

Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid β-glucosidase. The diminished enzyme activity leads to the accumulation of substrates and results in...
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