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CUGC for Stromme syndrome and CENPF-related disorders.
Filges I, Stromme P. Filges I, et al. Eur J Hum Genet. 2020 Jan;28(1):132-136. doi: 10.1038/s41431-019-0498-y. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488893 Free PMC article.
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/chr …
Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.Apple peel syndrome with microcephaly and ocular anoma …
The first case report of Stromme syndrome in a Chinese patient: Expanding the phenotype and literature review.
Ho S, Luk HM, Lo IFM. Ho S, et al. Am J Med Genet A. 2022 May;188(5):1626-1629. doi: 10.1002/ajmg.a.62646. Epub 2022 Jan 9. Am J Med Genet A. 2022. PMID: 35001526 Review.
Stromme syndrome (MIM #243605) is a rare autosomal recessive ciliopathy resulting from compound heterozygous or homozygous pathogenic alterations in the CENPF gene (# 600236). ...To our knowledge, this is the first reported Chinese individual with molecularly confir …
Stromme syndrome (MIM #243605) is a rare autosomal recessive ciliopathy resulting from compound heterozygous or homozygous pat …
Stromme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108
Stromme syndrome was first described by Stromme et al. (1993) in siblings presenting with "apple peel" type intestinal atresia, ocular anomalies and microcephaly. ...Recently, mutations in this gene were shown to cause a fetal lethal phenotype, the phenotype and fun …
Stromme syndrome was first described by Stromme et al. (1993) in siblings presenting with "apple peel" type intestinal atresia …
Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome.
Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Castori M, et al. Eur J Med Genet. 2010 May-Jun;53(3):149-52. doi: 10.1016/j.ejmg.2010.02.005. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219704
Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly and developmental delay. ...Comparison of the previously published and present patients added some details on the natural …
Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anoma …
A further family of Stromme syndrome carrying CENPF mutation.
Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. Ozkinay F, et al. Am J Med Genet A. 2017 Jun;173(6):1668-1672. doi: 10.1002/ajmg.a.38173. Epub 2017 Apr 13. Am J Med Genet A. 2017. PMID: 28407396
While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the ca …
While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CE …
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Stromme Syndrome.
Misceo D, Senaratne LDS, Mero IL, Sundaram AYM, Bjørnstad PM, Szczałuba K, Gasperowicz P, Kamien B, Nedregaard B, Holmgren A, Strømme P, Frengen E. Misceo D, et al. Genes (Basel). 2023 Oct 24;14(11):1985. doi: 10.3390/genes14111985. Genes (Basel). 2023. PMID: 38002928 Free PMC article.
Stromme syndrome is an ultra-rare primary ciliopathy with clinical variability. ...CENPF exon 1 is flanked by repetitive sequences that may represent a site of a recurrent structural variation, which should be a focus in patients with Stromme syndrome …
Stromme syndrome is an ultra-rare primary ciliopathy with clinical variability. ...CENPF exon 1 is flanked by repetitive seque …