Alban Ziegler

Jul 27, 2023 | frontiersin.org | Winyoo Chowanadisai |Alban Ziegler |Daniel Landau

1 IntroductionA distinctive autosomal recessive cerebro-renal syndrome, designated as Birk–Landau–Perez syndrome (BILAPES) (OMIM# 617595), has been reported to be associated with biallelic pathogenic variants in SLC30A9 (Perez et al., 2017). The BILAPES syndrome described by Perez et al. (2017) was identified in six individuals from a large multigenerational Bedouin consanguineous family of Saudi Arabian origin.