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Abnormalities, Multiple; Bone Diseases, Developmental; Cerebellum; Craniofacial Abnormalities; Eye Abnormalities; Genes, Recessive; Hedgehog Proteins; Kidney Diseases, Cystic; Mutation, Missense; Repressor Proteins; Retina
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Cells, Cultured; Child; Cohort Studies; Female; Fibroblasts; Gene Expression Regulation, Developmental; Humans; Kruppel-Like Transcription Factors; Male; Nerve Tissue Proteins; Sequence Analysis, DNA; Signal Transduction; Skin; Zinc Finger Protein Gli3
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