1979年多恩纪念讲座。视网膜畸形：先天性视网膜脱离和镰状皱襞的病因学异质性与形态学相似性 - Suppr

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Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds.

作者信息

Warburg M

出版信息

Trans Ophthalmol Soc U K (1962). 1979 Jul;99(2):272-83.

PMID:298427

Abstract

摘要

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Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds.1979年多恩纪念讲座。视网膜畸形：先天性视网膜脱离和镰状皱襞的病因学异质性与形态学相似性

Trans Ophthalmol Soc U K (1962). 1979 Jul;99(2):272-83.

Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling.先天性视网膜脱离、镰状皱襞和视网膜发育异常的异质性。遗传咨询指南。

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Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.删除 ATOH7 附近的一个远程增强子会破坏视网膜神经发生，导致 NCRNA 疾病。

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Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.脑积水、无脑回畸形、假性脑膨出、视网膜发育异常和前房异常。

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Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.可能是由突变引起的诺里病。两个同胞兄弟的散发病例，每个家族中有两名男性，对其中一例进行了尸检，并结合诺里病计算了基因突变频率。

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Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.一名女性中类似诺里病的原发性玻璃体视网膜发育异常：与X-常染色体易位相关

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J Med Genet. 1987 Mar;24(3):172-4. doi: 10.1136/jmg.24.3.172.

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