Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation.
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2155845
Abstract: BACKGROUND Mutations in the DYNC1H1 gene have been linked to multiple neurologic syndromes with a multitude of clinical manifestations, both ocular and non-ocular. Previous case reports have outlined various ocular phenotypes, including cataracts of congenital… read more here.
Keywords: ocular manifestations; manifestations year; dync1h1; year old ... See more keywords
A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis
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DOI: 10.1155/2022/6304859
Abstract: Background Liver hepatocellular carcinoma (LIHC) has had a continuous increase in incidence and mortality rates over the last 40 years. Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) is a protein coding gene which encodes the… read more here.
Keywords: heavy chain; expression; dync1h1; analysis ... See more keywords
Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review
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DOI: 10.3389/fneur.2023.1163803
Abstract: Background Mutations in the dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case… read more here.
Keywords: malformations cortical; case report; dync1h1; case ... See more keywords