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Abstract Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5… Click to show full abstract
Abstract Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 (NM_145698.4) gene using Clinical Exome Sequencing (Sophia Genetics).
Keywords:
novel acbd5;
defined peroxisomal;
newly defined;
acbd5 mutation;
peroxisomal disease;
disease novel
Journal Title: Journal of Pediatric Endocrinology and Metabolism
Year Published: 2021
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Journal Title: Journal of Pediatric Endocrinology and Metabolism
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!