A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Ocular coloboma is a common eye malformation resulting from incomplete fusion of the optic fissure during development. Coloboma is often associated with microphthalmia and/or contralateral anophthalmia. Coloboma shows extensive locus heterogeneity associated with causative mutations identified in ge...

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Publicado no:Hum Mol Genet
Main Authors: Liu, Chunqiao, Widen, Sonya A., Williamson, Kathleen A., Ratnapriya, Rinki, Gerth-Kahlert, Christina, Rainger, Joe, Alur, Ramakrishna P., Strachan, Erin, Manjunath, Souparnika H., Balakrishnan, Archana, Floyd, James A., Li, Tiansen, Waskiewicz, Andrew, Brooks, Brian P., Lehmann, Ordan J., FitzPatrick, David R., Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4787907/
https://ncbi.nlm.nih.gov/pubmed/26908622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw020
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