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.