Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference15 articles.
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3. Uniparental disomy and human disease: an overview;Yamazawa;Am J Med Genet C Semin Med Genet,2010
4. DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography;Lam;Mol Genet Metab,2002
5. A novel mutation in neonatal isolated sulphite oxidase deficiency;Lee;Neuropediatrics,2002
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1. Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency;Clinica Chimica Acta;2022-07
2. Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies;Frontiers in Genetics;2022-02-03
3. Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family;Frontiers in Genetics;2021-05-07
4. Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2020-07
5. Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing;American Journal of Medical Genetics Part A;2020-01-08
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