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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
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.
Alghamdi M, Alkhamis WH, Bashiri FA, Jamjoom D, Al-Nafisah G, Tahir A, Abdouelhoda M. Alghamdi M, et al. Eur J Med Genet. 2020 May;63(5):103844. doi: 10.1016/j.ejmg.2020.103844. Epub 2020 Jan 14. Eur J Med Genet. 2020. PMID: 31953238 Review.
This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intestinal atresia, cranial and ocular malformations, and other organ systems could be involved. ...This is a report and literature review of CENPF …
This report describes siblings with Stromme syndrome, a rare genetic condition that primarily presents with a triad of intesti …