Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

Abstract Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and require combined clinical and molecular diagnoses t...

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Detalhes bibliográficos
Main Authors: Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-05-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Inherited retinal dystrophies
Inherited optic neuropathies
Molecular diagnosis
North Africa
Consanguinity
Phenotypic spectrum
Acesso em linha:https://doi.org/10.1186/s13023-022-02340-7
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