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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL. Beaman MM, et al. Am J Med Genet A. 2023 Nov;191(11):2757-2767. doi: 10.1002/ajmg.a.63363. Epub 2023 Aug 19. Am J Med Genet A. 2023. PMID: 37596828
Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. ...Here, we present three unrelated families with findings consistent with oculogast …
Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harb …
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J, Baldan F, Allegri L, Bregant E, Passon N, Franzoni A, D'Elia AV, Faletra F, Damante G, Mio C. Zucco J, et al. J Hum Genet. 2024 Jun;69(6):271-282. doi: 10.1038/s10038-024-01237-6. Epub 2024 Mar 8. J Hum Genet. 2024. PMID: 38459225 Free PMC article.
., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). ...
., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmenta …