Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000018695
Abstract: Abstract Rationale: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings. Prenatal diagnosis and fetal… read more here.
Keywords: diagnosis; prenatal diagnosis; jacobsen syndrome; ultrasonographic findings ... See more keywords
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004010
Abstract: Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including autism… read more here.
Keywords: jacobsen syndrome; syndrome; syndrome phenotype; congenital heart ... See more keywords