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Article

Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia.

International journal of molecular sciences - 18 Oct 2022

Koshevaya Yuliya S, Kusakin Aleksey V, Buchinskaia Natalia V, Pechnikova Valentina V, Serebryakova Elena A, Koroteev Alexander L, Glotov Andrey S, Glotov Oleg S

Abstract excerpt

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...

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Identifiers

PMID: 36293294
DOI: 10.3390/ijms232012437
PMCID: PMC9604141

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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