Publication | Open Access

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Systems BiologyMendelian DisorderGenetic DisorderGeneticsPathogenesisMolecular GeneticsDisease Gene Identification54-Bp ExonsGene ExpressionMedicineSplicing Variant