P342: NFIB and SMARCA5 pathogenic variants in a child with global developmental delay and oculocutaneous albinism: Hickam's dictum prevails!

Genetics in Medicine Open 2026 Open access

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Authors: Jessica A. Chicola, Faye L. Shapiro, Rhonda E. Schnur
DOI: 10.1016/j.gimo.2026.103836
Cited by: 0

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Chromatin Remodeling and Cancer

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103836–103836
Publication date
1 January 2026
Language
EN