Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cas...

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Detalles Bibliográficos
Autores principales: Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929874/
https://www.ncbi.nlm.nih.gov/pubmed/26130484
http://dx.doi.org/10.1038/ejhg.2015.155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929874/
https://www.ncbi.nlm.nih.gov/pubmed/26130484
http://dx.doi.org/10.1038/ejhg.2015.155

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