- Digenic or oligogenic mutations in presumed monogenic disorders: A review
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Ben-Mahmoud A, Gupta V, Kim CH, Layman LC, Kim HG
- KMID: 2544153
- J Genet Med.
- 2023 Jun;20(1):15-24.
- doi: 10.5734/JGM.2023.20.1.15
Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders... -
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- Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
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Choi Y, Choi DWY, Lee S
- KMID: 2544151
- J Genet Med.
- 2023 Jun;20(1):1-5.
- doi: 10.5734/JGM.2023.20.1.1
Until now, rare disease studies have mainly been carried out by detecting simple variants such as single nucleotide substitutions and short insertions and deletions in protein-coding regions of disease-associated gene... -
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- Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 sidechain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl
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Kim YJ, Cho S, Kim HY, Jung YH, Ko JM, Choi CW, Kim J
- KMID: 2544154
- J Genet Med.
- 2023 Jun;20(1):25-29.
- doi: 10.5734/JGM.2023.20.1.25
The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case... -
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- Fabry disease: current treatment and future perspective
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Yoo HW
- KMID: 2544152
- J Genet Med.
- 2023 Jun;20(1):6-14.
- doi: 10.5734/JGM.2023.20.1.6
Fabry disease (FD), a rare X-linked lysosomal storage disorder, is caused by mutations in the α-galactosidase A gene gene encoding α-galactosidase A (α-Gal A). The functional deficiency of α-Gal A... -
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