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Region Hovedstaden - en del af Københavns Universitetshospital
E-pub ahead of print

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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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
StatusE-pub ahead of print - 4 sep. 2021

Bibliografisk note

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

ID: 67847510