Abstract
Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.Apple peel syndrome with microcephaly and ocular anomalies.Ciliopathy phenotype.Primary microcephaly and intellectual disability.OMIM# of the disease 243605.Name of the analysed genes or DNA/chromosome segments CENPF.OMIM# of the gene(s) 600236.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in CENPF genes in diagnostic, prenatal settings, and for risk assessment in relatives.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Chromosomal Proteins, Non-Histone / genetics*
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Eye Abnormalities / diagnosis
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Eye Abnormalities / genetics*
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Genetic Testing / methods*
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Genetic Testing / standards
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Humans
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Intestinal Atresia / diagnosis
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Intestinal Atresia / genetics*
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Microcephaly / diagnosis
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Microcephaly / genetics*
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Microfilament Proteins / genetics*
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Mutation
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Phenotype
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Sensitivity and Specificity
Substances
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Chromosomal Proteins, Non-Histone
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Microfilament Proteins
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centromere protein F
Supplementary concepts
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Jejunal Atresia with Microcephaly and Ocular Anomalies