家族性婴儿肾小管酸中毒与先天性神经性耳聋：一种常染色体隐性综合征。 - Suppr | 超能文献

Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome.

作者信息

Cohen T, Brand-Auraban A, Karshai C, Jacob A, Gay I, Tsitsianov J, Shapiro T, Jatziv S, Ashkenazi A

出版信息

Clin Genet. 1973;4(3):275-8. doi: 10.1111/j.1399-0004.1973.tb01155.x.

DOI:10.1111/j.1399-0004.1973.tb01155.x

Abstract

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Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome.家族性婴儿肾小管酸中毒与先天性神经性耳聋：一种常染色体隐性综合征。

Clin Genet. 1973;4(3):275-8. doi: 10.1111/j.1399-0004.1973.tb01155.x.

2

The syndrome of renal tubular acidosis with nerve deafness.肾小管性酸中毒伴神经性耳聋综合征

Acta Paediatr Scand. 1976 Jan;65(1):100-4. doi: 10.1111/j.1651-2227.1976.tb04414.x.

3

Siblings with congenital renal tubular acidosis and nerve deafness.

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Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness.伴有耳聋的肾小管酸中毒综合征常染色体隐性遗传的证据。

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[Distal renal tubular acidosis: report of 3 cases].

J Genet Hum. 1979 Jun;27(2):157-66.

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Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.在一个患有肾小管酸中毒和感觉神经性耳聋的家族中出现无虹膜/青光眼和肾母细胞瘤。

Am J Med Genet Suppl. 1987;3:323-8. doi: 10.1002/ajmg.1320280538.

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[Renal tubular acidosis and perception deafness. Apropos of a familial form].[肾小管性酸中毒与感音神经性耳聋。关于一种家族性形式]

Ann Pediatr (Paris). 1990 Mar;37(3):175-7.

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Renal tubular acidosis with nerve deafness.肾小管性酸中毒伴神经性耳聋。

Ulster Med J. 1987 Oct;56(2):137-9.

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Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.三个摩洛哥远端肾小管性酸中毒伴耳聋家系的临床及分子学研究：ATP6V1B1 基因突变的新发现

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Renal tubular acidosis and deafness: report of a large family.肾小管酸中毒与耳聋：一个大家族的报告

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引用本文的文献

1

Renal tubular acidosis and nerve deafness.肾小管酸中毒与神经性耳聋。

Arch Dis Child. 1980 Mar;55(3):221-5. doi: 10.1136/adc.55.3.221.

2

Siblings with renal tubular acidosis and nerve deafness. The first family in Japan.患有肾小管性酸中毒和神经性耳聋的兄弟姐妹。日本的首个家族。

Hum Genet. 1984;66(2-3):282-5. doi: 10.1007/BF00286618.

3

The syndrome of renal tubular acidosis and nerve deafness. Discordant manifestations in dizygotic twin brothers.肾小管酸中毒与神经性耳聋综合征。双卵双胞胎兄弟中的不一致表现。

Pediatr Nephrol. 1991 Mar;5(2):235-7. doi: 10.1007/BF01095962.