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Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature.

作者信息

Gupta Abha, Vasudevan P, Biswas S, Smith J Clayton, Moore Anthony T, Lloyd Chris, Dutton G

机构信息

Calderdale Royal Hospital, Salterhebble, Halifax, United Kingdom.

出版信息

Ophthalmic Genet. 2009 Dec;30(4):157-60. doi: 10.3109/13816810903147980.

DOI:10.3109/13816810903147980
PMID:19852571
Abstract

We describe two cases of chorioretinal dysplasia and microcephaly and review the current literature regarding this topic.

摘要

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引用本文的文献

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Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis.小头畸形与脉络膜视网膜病变作为鉴别诊断的相关性
Diagnostics (Basel). 2023 Aug 3;13(15):2588. doi: 10.3390/diagnostics13152588.
2
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.在伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力迟钝综合征的家族性小头畸形中，没有基因座异质性的证据。
Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4.