Leber congenital amaurosis: Comprehensive survey of genetic heterogeneity. A clinical definition update;Amaurose congénitale de Leber: Le point sur l'hété rogénéité génétique, actualisation de la définition clinique

Journal Francais d'Ophtalmologie

Volumn 28, Issue 1, 2005, Pages 98-105

  Hanein, S ^a   Perrault, I ^a   Gerber, S ^a   Tanguy, G ^a   Hamel, C ^b   Dufier, J L ^a   Rozet, J M ^a   Kaplan, J ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b GUI DE CHAULIAC HOSPITAL   (France)

Author keywords

Blindness; Genetic counseling; Leber congenital amaurosis; Photoreceptors; Retina; Retinal pigment epithelium

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; BLINDNESS; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEALTH SURVEY; HUMAN; INFANT; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIGENE FAMILY; NEWBORN; NONHUMAN; PHOTORECEPTOR; PIGMENT EPITHELIUM; REVIEW;

EID: 13844262739     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(05)81031-9     Document Type: Article

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