Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

Hanein, Sylvain; Perrault, Isabelle; Gerber, Sylvie; Tanguy, Gaëlle; Rozet, Jean-Michel; Kaplan, Josseline

Hanein, Sylvain; Perrault, Isabelle; Gerber, Sylvie; Tanguy, Gaëlle; Rozet, Jean-Michel; Kaplan, Josseline.

Affiliation

Hanein S; Unitè de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.

Adv Exp Med Biol ; 572: 15-20, 2006.

Article in En | MEDLINE | ID: mdl-17249549

Subject(s)

Blindness/diagnosis; Blindness/genetics; Optic Atrophy, Hereditary, Leber/diagnosis; Optic Atrophy, Hereditary, Leber/genetics; Age of Onset; Alleles; Child, Preschool; DNA Mutational Analysis; Family Health; Genetic Linkage; Genotype; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Polymorphism, Genetic

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Collection: 01-internacional Database: MEDLINE Main subject: Blindness / Optic Atrophy, Hereditary, Leber Type of study: Diagnostic_studies Limits: Child, preschool / Humans / Infant / Newborn Language: En Journal: Adv Exp Med Biol Year: 2006 Document type: Article Affiliation country: France Country of publication: United States

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