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American Journal of Medical Genetics, Part A 11

Showing records 1 to 11 | Display all abstracts in American Journal of Medical Genetics, Part A

120503 TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Chacon-Camacho OF
American Journal of Medical Genetics, Part A 2024; 194: e63716

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120495 A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Chacon-Camacho OF
American Journal of Medical Genetics, Part A 2025; 197: e63869

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120503 TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Ordaz-Robles T
American Journal of Medical Genetics, Part A 2024; 194: e63716

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120495 A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Ordaz-Robles T
American Journal of Medical Genetics, Part A 2025; 197: e63869

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120503 TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Ordaz-Robles T
American Journal of Medical Genetics, Part A 2024; 194: e63716

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120495 A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Ordaz-Robles T; Cid-García MA; Cid-García MA
American Journal of Medical Genetics, Part A 2025; 197: e63869

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120503 TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Cid-García MA; Cid-García MA; Hofmann-Blancas ME
American Journal of Medical Genetics, Part A 2024; 194: e63716

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120495 A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Yepes-Rodríguez O; Arce-González R
American Journal of Medical Genetics, Part A 2025; 197: e63869

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120503 TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Ledesma-Gil J; García-Huerta MM
American Journal of Medical Genetics, Part A 2024; 194: e63716

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120495 A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant
Martínez-Aguilar A; Zenteno JC
American Journal of Medical Genetics, Part A 2025; 197: e63869

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120503 TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
Prado-Larrea C; Cortés-González V; Lozano-Garza RI; García-Vega D; Kim J; Khang R; Lee E; Zenteno JC
American Journal of Medical Genetics, Part A 2024; 194: e63716

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