A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one of...

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Detalles Bibliográficos
Autores principales: Chao, Ryan, Nevin, Linda, Agarwal, Pooja, Riemer, Jan, Bai, Xiaoyang, Delaney, Allen, Akana, Matthew, JimenezLopez, Nelson, Bardakjian, Tanya, Schneider, Adele, Chassaing, Nicolas, Schorderet, Daniel F., FitzPatrick, David, Kwok, Pui-yan, Ellgaard, Lars, Gould, Douglas B., Zhang, Yan, Malicki, Jarema, Baier, Herwig, Slavotinek, Anne
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868029/
https://www.ncbi.nlm.nih.gov/pubmed/20485507
http://dx.doi.org/10.1371/journal.pone.0010565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868029/
https://www.ncbi.nlm.nih.gov/pubmed/20485507
http://dx.doi.org/10.1371/journal.pone.0010565

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