• Medientyp: E-Artikel
  • Titel: Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A  G mutation in the FATP4 gene
  • Beteiligte: Al Mandhari, Hilal; Al‐Musalhi, Buthaina; Al Mahroqi, Nouh; Hilmarsen, Hilde T.; Braathen, Geir J.; Khnykin, Denis
  • Erschienen: Wiley, 2021
  • Erschienen in: International Journal of Dermatology
  • Sprache: Englisch
  • DOI: 10.1111/ijd.15367
  • ISSN: 0011-9059; 1365-4632
  • Schlagwörter: Dermatology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the <jats:italic>SLC27A4</jats:italic> gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa‐like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.</jats:p>