Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa (ILNEB)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_975-1
Reference13 articles.
1. Alstrup M et al (2021) First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. Eur J Med Genet 64(11):104335. https://doi.org/10.1016/j.ejmg.2021.104335
2. Cohen-Barak E et al (2019) A nonjunctional, nonsyndromic case of junctional epidermolysis bullosa with renal and respiratory involvement. JAMA Dermatol 155(4):498–500. https://doi.org/10.1001/JAMADERMATOL.2018.5368
3. Colombo EA et al (2016) Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J Rare Dis 11(1):1–9. https://doi.org/10.1186/S13023-016-0514-Z
4. Has C, He Y (2017) Focal adhesions in the skin: lessons learned from skin fragility disorders. Eur J Dermatol 27(S1):8–11. https://doi.org/10.1684/ejd.2017.3039
5. Has C et al (2012) Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med 366(16):1508–1514. https://doi.org/10.1056/NEJMoa1110813
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