Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy

Journal of Medical Genetics · Published 2026-06-30 · DOI 10.1136/jmg-2025-111461

Authors (22)

Leila Youssefian, Sajjad Biglari, Fatemeh Vahidnezhad, Amir Hossein Saeidian, Rana Samii, Ali Reza Tavasoli, Elnaz Kalamati, Soheila Sotoudeh, Behnaz Bazargani, Sareh Hosseinpour, Neda Pak, Mohammad Amin Tabatabaiefar, Elaheh Malekan Rad, Mehrnaz Mesdaghi, Zahra Saffarian, Fatemeh Saffarian, Alyson Guy, Ariana Kariminejad, John McGrath, Johann E Gudjonsson, Hakon Hakonarson, Hassan Vahidnezhad

Abstract

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Publication details

Year
2026

Citation

Youssefian, L., Biglari, S., Vahidnezhad, F., et al. (2026). Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy. Journal of Medical Genetics. https://doi.org/10.1136/jmg-2025-111461

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