Associated Papers
GAPO syndrome: a comprehensive examination and review of 105 clinical cases.
Modafferi C et al.
Journal of Medical Genetics, 2025
Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review.
Balakrishnan S et al.
European Journal of Medical Genetics, 2024
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Abdel-Hamid MS et al.
American Journal of Medical Genetics. Part A, 2019
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