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

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.3, ss.437-441, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0194
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.437-441
  • Anahtar Kelimeler: genotype-phenotype correlation, peroxisomal disorders, PEX mutations, PEROXISOME BIOGENESIS, DISORDERS, SPECTRUM
  • Gazi Üniversitesi Adresli: Evet

Özet

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.