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. 2020 Jan;28(1):132-136.
doi: 10.1038/s41431-019-0498-y. Epub 2019 Sep 5.

CUGC for Stromme syndrome and CENPF-related disorders

Isabel Filges  1 , Petter Stromme  2
Affiliations

CUGC for Stromme syndrome and CENPF-related disorders

Isabel Filges et al. Eur J Hum Genet. 2020 Jan.

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.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

References

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