First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood
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First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. / Alstrup, Morten; Marks, Stephen D.; Ek, Jakob; Buchvald, Frederik; Lund, Thomas Kromann; Perch, Michael; Waters, Aiofe M.; Mogensen, Mette; Jelsig, Anne Marie.
In: European Journal of Medical Genetics, Vol. 64, No. 11, 104335, 2021.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood
AU - Alstrup, Morten
AU - Marks, Stephen D.
AU - Ek, Jakob
AU - Buchvald, Frederik
AU - Lund, Thomas Kromann
AU - Perch, Michael
AU - Waters, Aiofe M.
AU - Mogensen, Mette
AU - Jelsig, Anne Marie
N1 - Publisher Copyright: © 2021 The Authors
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Epidermolysis Bullosa
KW - ILNEB
KW - Interstitial Lung Disease
KW - Lung transplantation
KW - Nephrotic syndrome
U2 - 10.1016/j.ejmg.2021.104335
DO - 10.1016/j.ejmg.2021.104335
M3 - Journal article
C2 - 34492382
AN - SCOPUS:85114646455
VL - 64
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 11
M1 - 104335
ER -
ID: 280124722