Articles with "lopes maciel" as a keyword



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

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms232012437

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… read more here.

Keywords: lopes maciel; russia; case; maciel rodan ... See more keywords