一名女童的眼脑肾综合征 - Suppr

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Oculocerebrorenal syndrome in a female child.

作者信息

Svorc J, Masopust J, Komárková A, Macek M, Hyánek J

出版信息

Am J Dis Child. 1967 Aug;114(2):186-90.

PMID:4951545

Abstract

摘要

相似文献

Oculocerebrorenal syndrome in a female child.一名女童的眼脑肾综合征

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[Oculo-cerebro-renal syndrome in a newborn].[新生儿眼脑肾综合征]

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引用本文的文献

Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.在一位女性低综合征患者中发现肌-眼-肾综合征表型，其肌醇多磷酸 5-磷酸酶有一半量减少。

CEN Case Rep. 2020 May;9(2):95-100. doi: 10.1007/s13730-019-00434-z. Epub 2019 Nov 9.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.在一个有女性表现出 Lowe 综合征的家族中，家族性偏态 X 染色体失活的一个基因座定位于 X 染色体长臂 25 区。

J Hum Genet. 2006;51(11):1030-1036. doi: 10.1007/s10038-006-0049-6. Epub 2006 Sep 6.

X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.影响眼睛的X染色体连锁疾病：杂合子女性的状况

Trans Am Ophthalmol Soc. 1969;67:535-608.

Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome.

J Inherit Metab Dis. 1985;8(4):187-92. doi: 10.1007/BF01805433.

Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.洛氏眼脑肾综合征：利用紧密连锁的侧翼标记将该基因定位到Xq24 - q26，并在携带者诊断中与晶状体检查的相关性研究。

Am J Hum Genet. 1989 Feb;44(2):241-7.

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.利用限制性片段长度多态性将 Lowe 眼脑肾综合征定位到 Xq24-q26。

J Clin Invest. 1987 Jan;79(1):282-5. doi: 10.1172/JCI112795.

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.一名患有平衡型X;20易位的女性的 Lowe 眼脑肾综合征：X染色体断点的定位

Am J Hum Genet. 1991 Oct;49(4):804-10.

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