Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich

doi:10.1002/humu.9485

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Identifier:nobleid.org/w1/20260515/041EB87F

Type:Journal Article

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Sabine Defoort-Dhellemmes

Hélène Dollfus

Elisa Fazzi

Arnold Munnich

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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Identifier:nobleid.org/w1/20260515/041EB87F

Type:Journal Article

0 views

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Sabine Defoort-Dhellemmes

Hélène Dollfus

Elisa Fazzi

Arnold Munnich

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