The American Journal of Human Genetics · 2000 · 198 citations · 9 references
Life SciencesGeneticsNeurologyHuman GeneticsNeurogeneticsNeuropathologyCongenital AnomaliesCongenital DisordersDisorders Of Sex DevelopmentGenetic DisordersHereditary NeuropathiesNeurogenetic Disorders46, Xx Gonadal Dysgenesis46, Xy Gonadal DysgenesisHedgehog MedicineHedgehog Signaling DisruptionHedgehog Signaling MutationsMutationSignal Transduction In Hedgehog Pathway
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Nature Genetics · 1996 · 1.2K citations
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
Ralf J. Jäger, Maria Anvret, Kerstin Hall et al. · Nature · 1990 · 412 citations