A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2018.05.403
Abstract: Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused… read more here.
Keywords: roberts syndrome; mutation esco2; novel frameshift; gene ... See more keywords