[一名18号染色体短臂缺失患者的垂体性侏儒症和“Goldenhar型”多种畸形] - Suppr

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超能文献

[Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].

作者信息

Buffoni L, Tarateta A, Aicardi G, Vianello M G, Bonioli E

出版信息

Minerva Pediatr. 1976 Apr 7;28(12-3):716-29.

PMID:825713

Abstract

摘要

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[Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].[一名18号染色体短臂缺失患者的垂体性侏儒症和“Goldenhar型”多种畸形]

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引用本文的文献

Adults with Chromosome 18 Abnormalities.患有18号染色体异常的成年人。

J Genet Couns. 2015 Aug;24(4):663-74. doi: 10.1007/s10897-014-9793-5. Epub 2014 Nov 19.

Dystonia in a patient with deletion of 18p.一名18号染色体短臂缺失患者的肌张力障碍

Ital J Neurol Sci. 1998 Apr;19(2):90-3. doi: 10.1007/BF02427563.

Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.一名患有18号环状染色体的患者出现下丘脑生长激素缺乏症。

Eur J Pediatr. 1994 Feb;153(2):110-2. doi: 10.1007/BF01959220.

Growth hormone, suspected gonadotrophin deficiency, and ring 18 chromosome.生长激素、疑似促性腺激素缺乏症与18号环状染色体

Arch Dis Child. 1988 Sep;63(9):1090-1. doi: 10.1136/adc.63.9.1090.

18p- syndrome and hypopituitarism.

J Med Genet. 1992 Sep;29(9):671-2. doi: 10.1136/jmg.29.9.671.

18p-Mosaicism: case report and review.

Hum Genet. 1978 Oct 31;44(2):213-7. doi: 10.1007/BF00295417.

18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.一名轻度患病成年男性因（13a；18q）易位导致的18p-综合征。

J Med Genet. 1979 Oct;16(5):399-402. doi: 10.1136/jmg.16.5.399.

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