American journal of medical genetics. Part A
KDM2B-Related Neurodevelopmental Disorder A Case-Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features.
Adriana Gomes, Álvaro Martín-Rodríguez, Miguel Del Campo, Lynne M Bird
Published: 202510.1002/ajmga.70036
Abstract
The KDM2B-related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemi…
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