Condition: Arhinia, choanal atresia, and microphthalmia
rs1057519639
in
SMCHD1
gene and
Arhinia, choanal atresia, and microphthalmia
PMID 28067909
2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
PMID 29748383
2018 FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
PMID 28067911
2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.