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Genetics of congenital eye malformations: insights from chick experimental embryology

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Embryological manipulations in chick embryos have been pivotal in our understanding of many aspects of vertebrate eye formation. This research was particularly important in uncovering the role of tissue interactions as drivers of eye morphogenesis and to dissect the function of critical genes. Here, we have highlighted a few of these past experiments to endorse their value in searching for hitherto unknown causes of rare congenital eye anomalies, such as microphthalmia, anophthalmia and coloboma. We have also highlighted a number of similarities between the chicken and human eye, which might be exploited to address other eye pathologies, including degenerative ocular diseases.

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We wish to thank Drs. Linnea Weiss and Nicola Ragge for criticisms and proof-reading the manuscript. Work in our labs is supported by the following grants: MINECO BFU2016-75412-R (including FEDER funds); PCIN-2015-176-C02-01/ERA-Net Neuron II and the CIBERER, ISCIII to PB; MINECO BFU2017-86339P and FEDER-2017 to JRMM; MINECO BFU2016-81887-REDT and Fundación Ramón Areces-2016 to both JRMM and PB and an Institutional Grant to the CBMSO from the Fundación Ramón Areces and Banco Santander.

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Correspondence to Paola Bovolenta.

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Bovolenta, P., Martinez-Morales, J. Genetics of congenital eye malformations: insights from chick experimental embryology. Hum Genet 138, 1001–1006 (2019). https://doi.org/10.1007/s00439-018-1900-5

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