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DefinitionThis section has been translated automatically.
The CHD7 gene (CHD7 stands for "Chromodomain Helicase DNA Binding Protein 7") is a protein coding gene located on chromosome 8q12.2. Two transcript variants encoding different isoforms have been found for this gene.
The CHD7 gene encodes a protein containing multiple domains of the helicase family. This is probably a transcriptional regulator.
ClinicThis section has been translated automatically.
Diseases associated with CHD7 include charge syndrome and hypogonadotropic hypogonadism 5 with or without anosmia.
LiteratureThis section has been translated automatically.
- Alazami AM et al (2008) Expanding the 'E' in CHARGE. (Letter) Am J Med Genet 146A: 1890-1892.
- Kallen K et al (1999) CHARGE association in newborns: a registry-based study. Teratology 60: 334-343.
- Van de Laar I et al (2007) Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. Am J Med Genet 143A: 2712-2715.
- Wheeler PG et al (2000) Hypogonadism and CHARGE association. Am J Med Genet 94: 228-231.
- Writzl K et al (2007) Immunological abnormalities in CHARGE syndrome. Europ J Med Genet. 50: 338-345.
