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.

I: European Journal of Medical Genetics, Bind 64, Nr. 11, 104335, 2021.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Alstrup, M, Marks, SD, Ek, J, Buchvald, F, Lund, TK, Perch, M, Waters, AM, Mogensen, M & Jelsig, AM 2021, 'First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood', European Journal of Medical Genetics, bind 64, nr. 11, 104335. https://doi.org/10.1016/j.ejmg.2021.104335

APA

Alstrup, M., Marks, S. D., Ek, J., Buchvald, F., Lund, T. K., Perch, M., Waters, A. M., Mogensen, M., & Jelsig, A. M. (2021). First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. European Journal of Medical Genetics, 64(11), [104335]. https://doi.org/10.1016/j.ejmg.2021.104335

Vancouver

Alstrup M, Marks SD, Ek J, Buchvald F, Lund TK, Perch M o.a. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. European Journal of Medical Genetics. 2021;64(11). 104335. https://doi.org/10.1016/j.ejmg.2021.104335

Author

Alstrup, Morten ; Marks, Stephen D. ; Ek, Jakob ; Buchvald, Frederik ; Lund, Thomas Kromann ; Perch, Michael ; Waters, Aiofe M. ; Mogensen, Mette ; Jelsig, Anne Marie. / First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. I: European Journal of Medical Genetics. 2021 ; Bind 64, Nr. 11.

Bibtex

@article{c171ae063aff4dfe932ff6f3185e17c5,

title = "First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood",

abstract = "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.",

keywords = "Epidermolysis Bullosa, ILNEB, Interstitial Lung Disease, Lung transplantation, Nephrotic syndrome",

author = "Morten Alstrup and Marks, {Stephen D.} and Jakob Ek and Frederik Buchvald and Lund, {Thomas Kromann} and Michael Perch and Waters, {Aiofe M.} and Mette Mogensen and Jelsig, {Anne Marie}",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

doi = "10.1016/j.ejmg.2021.104335",

language = "English",

volume = "64",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

number = "11",

}

RIS

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

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