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

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

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 <i>HTT</i> gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) w...

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Bibliographic Details
Main Authors: Yuliya S. Koshevaya, Aleksey V. Kusakin, Natalia V. Buchinskaia, Valentina V. Pechnikova, Elena A. Serebryakova, Alexander L. Koroteev, Andrey S. Glotov, Oleg S. Glotov
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
Lopes–Maciel–Rodan syndrome
LOMARS
clinical forms of LOMARS syndrome
huntingtin
<i>HTT</i> gene
SNP
Online Access:https://www.mdpi.com/1422-0067/23/20/12437

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