Leber Congenital Amaurosis 10
Presentation
Respiratoric
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Anosmia
[…] peroxisome biogenesis disorders. 6 Waterham HR...Ebberink MS 22871920 2012 7 Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. 56 Papon JF...Escudier E 20805370 2010 8 Hypomorphic CEP290/NPHP6 mutations result in anosmia [malacards.org]
Treatment
Feb 18, 2013 Eye On the Cure Research News History in the Making More good news about treatments and technological advances for restoring vision for people with retinal diseases. [fightingblindness.org]
Prevention
anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]