Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations-Reference-Cited by-同舟云学术

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Published:2016-10-07 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Colombo Elisa Adele,Spaccini Luigina,Volpi Ludovica,Negri Gloria,Cittaro Davide,Lazarevic Dejan,Zirpoli Salvatore,Farolfi Andrea,Gervasini Cristina,Cubellis Maria Vittoria,Larizza Lidia

Funder

Progetto accordo quadro Regione Lombardia-Università lombarde

Dote di Ricerca FSE, Regione Lombardia

Fondazione Nando Peretti

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0514-z.pdf

Reference46 articles.

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3. Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol. 2008;88:438–48.

4. Has C, Spartà G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, et al. Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med. 2012;366:1508–14.

5. Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, et al. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. J Clin Invest. 2012;122:4375–87.

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