Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Ca...

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Detalles Bibliográficos
Autores principales: Ahmed, Mariya R., Sethna, Saumil, Krueger, Laura A., Yang, Michael B., Hufnagel, Robert B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949076/
https://www.ncbi.nlm.nih.gov/pubmed/35327965
http://dx.doi.org/10.3390/genes13030411

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949076/
https://www.ncbi.nlm.nih.gov/pubmed/35327965
http://dx.doi.org/10.3390/genes13030411

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