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Porcn is essential for growth and invagination of the mammalian optic cup

Microphthalmia, anophthalmia, and coloboma (MAC) are congenital ocular malformations causing 25% of childhood blindness. The X-linked disorder Focal Dermal Hypoplasia (FDH) is frequently associated with MAC and results from mutations in Porcn, a membrane bound O-acyl transferase required for palmito...

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Detalles Bibliográficos
Autores principales: Fuhrmann, Sabine, Ramirez, Sara, Mina Abouda, Mirna, Campbell, Clorissa D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9661423/
https://www.ncbi.nlm.nih.gov/pubmed/36393832
http://dx.doi.org/10.3389/fcell.2022.1016182