Condition: Multiple pterygium syndrome
rs121912670 in
CHRNG gene and
Multiple pterygium syndrome
PMID 16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.