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
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10
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DOI: 10.3390/genes13112154
Abstract: TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high… read more here.
Keywords: tarp syndrome; rbm10; tarp; phenotype associated ... See more keywords