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Paper Details

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med
117
2018
Autosomal recessive Noonan syndrome, Exome, LZTR1, LZTR1 variants, Noonan syndrome, cardiac disease, children, chromosome 22q11, leukemia, multigene panel, noncanonical splicing variants, patients, splice variants
Author NameAffiliation
Jennifer J JohnstonNational Human Genome Research Institute, National Institutes of Health
Jennifer J JohnstonNational Human Genome Research Institute, National Institutes of Health
Alistair T PagnamentaNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Margaret HarrCenter for Applied Genomics, Children's Hospital of Philadelphia
Kathleen A LeppigKaiser Permanente of Washington
Julie C SappNational Human Genome Research Institute, National Institutes of Health
Alejandro A Sch??fferNational Center for Biotechnology Information
Jenny C TaylorNational Institute for Health Research Oxford Biomedical Research Centre, University of Oxford
Elaine H ZackaiChildren's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania
Martin ZenkerInstitute of Human Genetics, University Hospital
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health
Leslie G BieseckerNational Human Genome Research Institute, National Institutes of Health
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