Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).

2006
https://researcherprofiles.org/profile/1450941
17043134
Shieh JT, Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE