Skip to Main Content

Paper Details

Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
6
2020
Saul-Wilson syndrome, cystic macular changes, neutropenia, patients, rod-cone dystrophy, short stature, skeletal fragility
Author NameAffiliation
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health
Seth I BergerCenter for Genetic Medicine and Research, Children's National Hospital
William G WilsonUniversity of Virginia Health System
George E TillerKaiser Permanente
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Daniel R CarvalhoSARAH Network of Rehabilitation Hospitals
Angela L DukerNemours/A.I. duPont Hospital for Children
Heiko BratkeHaugesund District Hospital
Marte G HaugSt. Olav's Hospital
Luis RohenaSan Antonio Military Medical Center
Luis RohenaUniversity of Texas Health Science Center
Hanne B HoveRigshospitalet
Zhi-Jie XiaSanford Burnham Prebys Medical Discovery Institute
Bobby G NgSanford Burnham Prebys Medical Discovery Institute
Hudson H FreezeSanford Burnham Prebys Medical Discovery Institute
Melissa GabrielChildren's Hospital of Los Angeles, University of Southern California
Alvaro H Serrano RussiChildren's Hospital of Los Angeles, University of Southern California
Lauren BrickMcMaster Children's Hospital, McMaster University
Mariya KozenkoMcMaster Children's Hospital, McMaster University
Dawn Earl
Emma ThamCenter for Molecular Medicine, Karolinska Institutet
Emma ThamKarolinska University Hospital
Gen NishimuraCenter for Intractable Diseases, Saitama Medical University Hospital
John A PhillipsVanderbilt University Medical Center
John A PhillipsVanderbilt University Medical Center
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Rizwan HamidVanderbilt University Medical Center
Rizwan HamidVanderbilt University Medical Center
Andrew P JacksonInstitute of Genetics and Molecular Medicine, University of Edinburgh
Andrew P JacksonInstitute of Genetics and Molecular Medicine, University of Edinburgh
Giedre GrigelionieneCenter for Molecular Medicine, Karolinska Institutet
Giedre GrigelionieneKarolinska University Hospital
Michael B BoberNemours/A.I. duPont Hospital for Children
  • 1 - 35

Datasets