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 HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to ach...

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Detalles Bibliográficos
Autores principales: Koshevaya, Yuliya S., Kusakin, Aleksey V., Buchinskaia, Natalia V., Pechnikova, Valentina V., Serebryakova, Elena A., Koroteev, Alexander L., Glotov, Andrey S., Glotov, Oleg S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604141/
https://www.ncbi.nlm.nih.gov/pubmed/36293294
http://dx.doi.org/10.3390/ijms232012437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604141/
https://www.ncbi.nlm.nih.gov/pubmed/36293294
http://dx.doi.org/10.3390/ijms232012437

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