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Autor:
Tony Yuen, John W Funder, Chen Ling, Maryam Al Badi, Vitalii Mudryi, Maria I. New, Mone Zaidi, Robert C. Wilson, Se-Min Kim, Maryam Razzaghy-Azar, Hatice Nur Ozdemir, Mabel Yau, Aysenur Toygar, Jozef Hertecant, Mehr Mathew, Madison Bloch, Wafa Abdullah, Shozeb Haider, Samir Zaidi, Sinead Ewert, Aisha Al Senani, Hanan Said Al Azkawi, Monica Patel, Wahid Abu-Amer, Mouch Alzubdi, Ahmed Khattab, Li Sun
Publikováno v:
Proceedings of the National Academy of Sciences. 114
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated.