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- About ZC4H2 - ZC4H2 Foundation
ZC4H2 Associated Rare Disorders or ZARD, is an ultra-rare genetic condition with neurologic and neuromuscular involvement It is caused by mutations (pathogenic variants) of the ZC4H2 gene The ZC4H2 gene encodes (“produces”) the ZC4H2 protein which is essential for normal development
- ZC4H2-Associated Rare Disorders (ZARD)
ZC4H2 Associated Rare Disorders (ZARD) 1 is an ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful changes (pathogenic variants) of the ZC4H2 gene
- Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene . . .
In summary, this study revealed that ZC4H2 regulates bone resorption activity by inhibiting osteoclast differentiation in mice, providing new clues regarding the pathology of bone related phenotypes of ZARD
- ZC4H2-Associated Rare Disorders - Wikipedia
These nomenclatures describe the phenotypes observed in some individuals with a deleterious mutation on the ZC4H2 gene but they do not accurately define the highly varied clinical presentations found among the affected population
- The pathogenic factor of ZC4H2-associated rare disorder is a . . . - PNAS
This study identifies ZC4H2, the pathogenic factor in ZARD, as a postsynaptic regulator that orchestrates excitatory synaptic activity through direct association with core PSD molecules, including AMPARs
- ZC4H2 — Orphan Disease Center
Pathogenic mutations in the zinc finger C4H2-type gene (ZC4H2) are associated with a neurodevelopmental and neuromuscular disorder often diagnosed as a form of arthrogryposis multiplex congenita
- Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated . . .
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
- Genotype-Phenotype Correlations and Sex Differences in ZC4H2 . . . - PubMed
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
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