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Leber congenital amaurosis 16

Leber congenital amaurosis 16 is an autosomal recessive disorder caused by mutations of the KCNJ13 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
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Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
KCNJ13
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Sergouniotis PI et al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

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2.

Khan AO et al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

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3.

Pattnaik BR et al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

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4.

OMIM.ORG article

Omim 614186 external link
Update: Aug. 14, 2020
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