SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4Hannah Mandel(Technion – Israel Institute of Technology), Eli Sprecher(Technion – Israel Institute of Technology)The American Journal of Human GeneticsJanuary 1, 200810.1016/j.ajhg.2007.08.005Cited by 279SaveCiteExport RISWatch citationsRelated PapersMutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis|Nature Genetics|2004|594Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression|Scientific Reports|2022|8