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A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype

Title: A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype
Authors: Rowe, Leah; Mullegama, Sureni V.; Lombardo, Rachel; Barnes, Caitlin; Towner, Shelley; Snyder, Matthew T.; Heidlebaugh, Alexis; Riordan, Heather; Begtrup, Amber; Crunk, Amy; Cui, Hong; Dameron, Amy E.; Folk, Leandra; Guillen Sacoto, Maria J.; Juusola, Jane; Redlich, Olivia L.; Reich, Adi; McGivern, Bobbi
Contributors: National Institute of Child Health and Human Development
Source: Human Genetics and Genomics Advances ; volume 6, issue 2, page 100417 ; ISSN 2666-2477
Publisher Information: Elsevier BV
Publication Year: 2025
Collection: ScienceDirect (Elsevier - Open Access Articles via Crossref)
Document Type: article in journal/newspaper
Language: English
DOI: 10.1016/j.xhgg.2025.100417
Availability: https://doi.org/10.1016/j.xhgg.2025.100417; https://api.elsevier.com/content/article/PII:S266624772500020X?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S266624772500020X?httpAccept=text/plain
Rights: https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/legal/tdmrep-license ; http://creativecommons.org/licenses/by-nc-nd/4.0/
Accession Number: edsbas.DC666DFE
Database: BASE