Condition: Diaphanospondylodysostosis
rs1554300601
in
BMPER
gene and
Diaphanospondylodysostosis
PMID 30006055
2019 Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.
PMID 20869035
2010 BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.