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Full-Text Articles in Medicine and Health Sciences
The New Diagnostic Team, Mark L. Graber, Diana Rusz, Melissa L. Jones
The New Diagnostic Team, Mark L. Graber, Diana Rusz, Melissa L. Jones
Articles
The National Academy of Medicine (NAM) in the recently issued report Improving Diagnosis in Health Care outlined eight major recommendations to improve the quality and safety of diagnosis. The #1 recommendation was to improve teamwork in the diagnostic process. This is a major departure from the classical approach, where the physician is solely responsible for diagnosis. In the new, patient-centric vision, the core team encompasses the patient, the physician and the associated nursing staff, with each playing an active role in the process. The expanded diagnostic team includes pathologists, radiologists, allied health professionals, medical librarians, and others. We review the …
Molecular Analysis Expands The Spectrum Of Phenotypes Associated With Gli3 Mutations, Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Tilstra Md
Molecular Analysis Expands The Spectrum Of Phenotypes Associated With Gli3 Mutations, Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Tilstra Md
Articles
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) …