Overview
Gene (OMIM No.) |
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Function of gene/protein |
|
Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features | |
Systemic features | Microphthalmia, isolated, with coloboma 7:
|
Key investigations |
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Molecular diagnosis | Next generation sequencing
|
Management | Ocular |
Therapies under research |
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Further information |
References
- Gore DM, Chetty MC, Fisher J, Nicolaou A, Stewart GW. Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. Br J Haematol. 2002;117(1):212‐214
- Helias V, Saison C, Ballif BA, et al. ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. Nat Genet. 2012;44(2):170‐173
- Krishnamurthy PC, Du G, Fukuda Y, et al. Identification of a mammalian mitochondrial porphyrin transporter. Nature. 2006;443(7111):586‐589
- Wang L, He F, Bu J, et al. ABCB6 mutations cause ocular coloboma [published correction appears in Am J Hum Genet. 2012 Aug 10;91(2):397. Zhen, Yuanli [added]; Li, Wei [added]; Wang, Lejing [corrected to Wang, Lejin]; Liu, Xiaqi [corrected to Liu, Xiaoqui]]. Am J Hum Genet. 2012;90(1):40‐48
- Zhang C, Li D, Zhang J, et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013;133(9):2221‐2228