Manunta P, Burnier M, D'Amico M, Buzzi L, Maillard M, Barlassina C, Lanella G, Cusi D, Bianchi G

Adducin polymorphism affects renal proximal tubule reabsorption in hypertension.

Hypertension 33:694-7 (1999)
DOI:10.1161/01.hyp.33.2.694

Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Genet Med 24:319-331 (2022)
DOI:10.1016/j.gim.2021.09.014