Condition: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS


rs1052954321 in ALPK1 gene and ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.