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Autosomal dominant iridogoniodysgenesis: genetic features.

作者信息

Pearce W G, Wyatt H T, Boyd T A, Ombres R S, Salter A B

出版信息

Can J Ophthalmol. 1983 Feb;18(1):7-10.

PMID:6839205
Abstract

Twenty-two members of two families have been identified as being affected with iridogoniodysgenesis. The major clinical features of this disorder are mesodermal remnants in the iridociliary angle associated with abnormal angle vasculature, marked hypoplasia of the iris stroma and increased intraocular pressure leading to glaucoma. The involvement of the two eyes is remarkably symmetric. Pedigree analysis of the larger family provided firm evidence for regular autosomal dominant inheritance as the mechanism of genetic transmission.

摘要

相似文献

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Autosomal dominant iridogoniodysgenesis: genetic features.
Can J Ophthalmol. 1983 Feb;18(1):7-10.
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引用本文的文献

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Oral and craniofacial clinical signs associated to genetic conditions in human identification part I: a review.与人类身份识别中遗传疾病相关的口腔和颅面临床体征 第一部分:综述
J Int Oral Health. 2015 May;7(5):81-6.
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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.Axenfeld-Rieger异常患者中叉头/翼状螺旋基因FKHL7的突变。
Am J Hum Genet. 1998 Nov;63(5):1316-28. doi: 10.1086/302109.
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Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.常染色体显性Axenfeld-Rieger异常定位于6p25。
Am J Hum Genet. 1997 Sep;61(3):765-8.
4
Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning.通过基因组错配扫描鉴定包含虹膜发育异常位点的人类染色体区域。
Am J Hum Genet. 1997 Jul;61(1):111-9. doi: 10.1086/513894.
5
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.常染色体显性虹膜角膜内皮发育异常定位于6p25。
Am J Hum Genet. 1996 Dec;59(6):1321-7.