Human Genetics · 2001 · 45 citations · 12 references
Life SciencesGeneticsMolecular GeneticsCraniofacial GeneticsHuman GeneticsMedical GeneticsDevelopmental MutationsGenetic DisordersGermline Variant AnalysisGermline Variant InterpretationNeurodevelopmental GeneticsNeurogenetic DisordersDe Novo Mutations In Developmental DisordersHoloprosencephaly MutationsNeurodevelopmental Disorder Mutations
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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 common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 623 citations
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
Stephen Brown, Dorothy Warburton, Lucia Brown et al. · Nature Genetics · 1998 · 522 citations
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Deeann Wallis, Erich Roessler, Ute Hehr et al. · Nature Genetics · 1999 · 429 citations