Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome

Online Mendelian Inheritance In Man (OMIM)

Ada Hamosh, Alan L. Scott, Joanna Amberger et al. · Human Mutation · 2000 · 1.2K citations · Full text

Omim Entry, Genetics, Genetic Epidemiology +19

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations

Judith G. Hall, Philip D. Pallister, Sterling K. Clarren et al. · American Journal of Medical Genetics · 1980 · 346 citations

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran et al. · The American Journal of Human Genetics · 2005 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Autosomal dominant transmission of the Pallister-Hall syndrome

Kathryn F. Topf, Gad B. Kletter, Robert P. Kelch et al. · The Journal of Pediatrics · 1993 · 47 citations

Mendelian Disorder, Autosomal Dominant Transmission, Progressive Supranuclear Palsy +2

Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

K M Unsinn, Nikolaus Neu, Aneta Krejčí et al. · Journal of Medical Genetics · 1995 · 41 citations · Full text

Pallister-hall Syndrome, Brain Anomalies, Scleroderma +11