RAPSN
MIM.601592 11p11.2-p11.1
Pathology
germline mutations in
- congenital myasthenic syndrome associated with AChR deficiency (MIM.608931)
- multiple pterygium syndrome (MPS)/fetal akinesia syndrome (FAS) (#18179903#)
References
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008 Jan;82(1):222-7. PMID: 18179903#