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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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Detalles Bibliográficos
Autores principales:	Liu, Yunqiang, Lu, Yongjie, Liu, Shasha, Liao, Shunyao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2017
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488456/ https://www.ncbi.nlm.nih.gov/pubmed/28590501 http://dx.doi.org/10.1590/1678-4685-GMB-2016-0120

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