Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of unlparental disomy 14

Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor visual acuity, photodysphoria, pendular Infantile nystagmus, and abnormal photopic electroretinographic (ERG) recordings with...

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Veröffentlicht in:	Human genetics 2007-05, Vol.121 (3-4), p.433-439
Hauptverfasser:	Wiszniewski, W, Lewis, R A, Lupski, J R
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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