Gain- and loss-of-function mutations cause perinatal lethality in mouse models of Birk-Barel syndrome
Sylvain F. Feliciangeli, Franck C. Chatelain, Frédéric FIORE…·Florian Lesage
This study shows that gain- and loss-of-function mutations in KCNK9 cause perinatal lethality in mice, indicating BBS pathogenesis involves mechanisms beyond channel activity.