Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation


Havali C., Dorum S., Akbas Y., Gorukmez O., HIRFANOĞLU T.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.3, pp.437-441, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2019-0194
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.437-441

Abstract

Background: Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs.