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Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.
Sambharia M, Freese ME, Donato F, Bathla G, Abukhiran IMM, Dantuma MI, Mansilla MA, Thomas CP. Sambharia M, et al. Among authors: dantuma mi. Nephron. 2024;148(4):264-272. doi: 10.1159/000527991. Epub 2023 Jan 6. Nephron. 2024. PMID: 36617405 Review.