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Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G...
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| Publicado no: | Genet Mol Biol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sociedade Brasileira de Genética
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5488456/ https://ncbi.nlm.nih.gov/pubmed/28590501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2016-0120 |
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