Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 Gene
- 期刊名称Journal of Clinical & Medical Genomics
- 作者R, Smigiel; K, Kusmierska; A, Pollak; K, Szmyd; J, Kosinska; T, Polawski; G, Kostrzewa; MM, Sasiadek; R, Ploski
- 卷第5卷
- 期第2期
- 电子ISSN2472-128X
- 文件大小455.84KB
- 发表时间2017
- DOI10.4172/2472-128X.1000145
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