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Article

Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder.

Pediatric neurology - 1 Sept 2024

Peters Sydney, Sportiello Kristen, Mandalapu Shreya, Nguyen Ashlie, Carrier Ryan, Dickinson Carolyn, Paciorkowski Alex, Bearden David

Abstract excerpt

BACKGROUND: ZC4H2-associated rare disorder (ZARD) is caused by pathogenic variations in the ZC4H2 gene on the X chromosome. This gene codes for a zinc finger protein involved in neural development. ZARD is characterized by highly variable symptoms, potentially influenced by the sex of the individual. METHODS: The ZC4H2-Associated Rare Disorder Natural History Study is a prospective natural history study conducted...

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Identifiers

PMID: 39032379
DOI: 10.1016/j.pediatrneurol.2024.06.009
PMCID: PMC11339686

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