No abstract available
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adolescent
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Basal Bodies / metabolism
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Basal Bodies / pathology*
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Cerebellar Diseases / genetics*
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Cerebellar Diseases / pathology
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Cerebellum / abnormalities
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Child
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Child, Preschool
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Cilia / metabolism
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Cilia / pathology*
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Eye Abnormalities / genetics*
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Eye Abnormalities / pathology
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / pathology
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Genotype
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Humans
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Infant, Newborn
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Kidney Diseases, Cystic / genetics*
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Kidney Diseases, Cystic / pathology
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Male
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Mutation*
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Orofaciodigital Syndromes / genetics*
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Orofaciodigital Syndromes / pathology
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Phenotype
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Proteins / genetics*
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Retina / abnormalities*
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Retina / pathology
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Young Adult
Substances
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OFD1 protein, human
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Proteins
Supplementary concepts
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Agenesis of Cerebellar Vermis
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Simpson-Golabi-Behmel Syndrome, Type 2