Forskning
Udskriv Udskriv
Switch language
Bispebjerg Hospital - en del af Københavns Universitetshospital
Udgivet

First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Lung Ultrasound to Phenotype Chronic Lung Allograft Dysfunction in Lung Transplant Recipients. A Prospective Observational Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Classification of death causes after transplantation (CLASS): Evaluation of methodology and initial results

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Trefoil factor peptides in serum and sputum from subjects with asthma and COPD

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Blood and urinary concentrations of salbutamol in asthmatic subjects

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Morten Alstrup
  • Stephen D Marks
  • Jakob Ek
  • Frederik Buchvald
  • Thomas Kromann Lund
  • Michael Perch
  • Aoife M Waters
  • Mette Mogensen
  • Anne Marie Jelsig
Vis graf over relationer

Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB syndrome of whom 7 died in infancy or early childhood. We report the only patient with ILNEB syndrome who survived past adolescence, partly due to a double lung transplant. Additionally, our patient showed oral, nasal and gynecological symptoms not previously reported in patients with ILNEB syndrome.

OriginalsprogEngelsk
Artikelnummer104335
TidsskriftEuropean Journal of Medical Genetics
Vol/bind64
Udgave nummer11
Sider (fra-til)104335
ISSN1769-7212
DOI
StatusUdgivet - nov. 2021

Bibliografisk note

Copyright © 2021 The Authors. Published by Elsevier Masson SAS.. All rights reserved.

ID: 67847510