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Article

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

American journal of medical genetics. Part A - 1 Nov 2023

Beaman M Makenzie, Guidugli Lucia, Hammer Monia, Barrows Chelsea, Gregor Anne, Lee Sangmoon, Deak Kristen L, McDonald Marie T, Jensen Courtney, Zaki Maha S, Masri Amira T, Hobbs Charlotte A, Gleeson Joseph G, Cohen Jennifer L

Abstract excerpt

Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants exhibit phenotypes including microcephaly and craniofacial abnormalities, cardiac...

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PMID: 37596828
DOI: 10.1002/ajmg.a.63363
PMCID: PMC11141336

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