Developmental pleiotropy revealed by mosaic heterozygous Snrpb deletion underlies CCMS-like axial skeletal defects
It is indicated that Snrpb dysfunction disrupts the early specification of axial skeletal identity without overtly altering somite patterning, establishing the first in vivo model of CCMS-associated axial skeletal abnormalities and indicating that Snrpb dysfunction contribute to disease pathogenesis.