title: A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.
authors.affiliation: Division of Human Genetics Division of Neuropediatrics, University Children's Hospital, Inselspital, Bern, Switzerland CeGaT GmbH, Tübingen, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Hansen
authors.forename: Julia
authors.initials: J
authors.lastname: Mohr
authors.forename: Sarah
authors.initials: S
authors.lastname: Bürki
authors.forename: Johannes R
authors.initials: JR
authors.lastname: Lemke
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000378:metabolism*; D003635:De Lange Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D000097722:Cohesins; D000098550:Structural Maintenance of Chromosome Protein 1
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D022821:RNA Splice Sites; D000097722:Cohesins; D000098550:Structural Maintenance of Chromosome Protein 1