Collagen 4 (COL4) mutation: systemic features
Evidence-based neurology checklist on collagen 4 (col4) mutation: systemic features: Axenfeld-Riger anomaly (iridogoniodysgenesis): features Anterior chamber dysgenesis Iris hypoplasia Iris tears Eccentric pupil Iridocorneal tissue adhesions Other ophthalmic features Cardiac features Renal…
Axenfeld-Riger anomaly (iridogoniodysgenesis): features
- Anterior chamber dysgenesis
- Iris hypoplasia
- Iris tears
- Eccentric pupil
- Iridocorneal tissue adhesions
Other ophthalmic features
Cardiac features
Renal features
Other systemic features
Synonym
Acronym
References
- Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease. Stroke 2010; 41:e513-e518.
- Zagaglia S, Selch C, Nisevic JR, et al. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease. Neurology 2018; 91:e2078-e2088.
- Meuwissen ME, Halley DJ, Smit LS, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 2015; 17:843-853.
- Meuwissen MEC, de Vries LS, Verbeek HA, et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydrancephaly. Neurology 2011; 76:844-846.
- Alamowitch S, Plaisier E, Favrole P, et al. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 2009; 73:1873-1882.
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