Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopmental features, but the relationship to the ALDH1A3 variants remains unclear. Here, we describe seve...

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Detalles Bibliográficos
Autores principales: Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545824/
https://www.ncbi.nlm.nih.gov/pubmed/36997679
http://dx.doi.org/10.1038/s41431-023-01342-8

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