2022
DOI: 10.3390/ijms232012437
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Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia

Abstract: Lopes–Maciel–Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to achieve a definitive molecular diagnosis of the disorder. All NGS-identified variants underwent the Sanger confirmation. In addition, a literature review on genetic variations in the HTT gene was conducted. The paper r… Show more

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Cited by 2 publications
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“…It is therefore necessary to analyze both steroid sulfatase (STS) and filaggrin (FLG) genes to exclude combined forms of ichthyosis. Notably, NGS allows us to identify P or LP SNPs in genes that were earlier believed to possess mutations of a single type [ 52 ].…”
Section: Human Monogenic Diseases: Population Genetics Researchmentioning
confidence: 99%
“…It is therefore necessary to analyze both steroid sulfatase (STS) and filaggrin (FLG) genes to exclude combined forms of ichthyosis. Notably, NGS allows us to identify P or LP SNPs in genes that were earlier believed to possess mutations of a single type [ 52 ].…”
Section: Human Monogenic Diseases: Population Genetics Researchmentioning
confidence: 99%