全外显子组测序在一名布卢姆综合征患者基因诊断中的价值。 - Suppr | 超能文献

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The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.全外显子组测序在一名布卢姆综合征患者基因诊断中的价值。

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[Bloom syndrome].

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Molecular genetics of RecQ helicase disorders.RecQ解旋酶疾病的分子遗传学

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Three new BLM gene mutations associated with Bloom syndrome.与布卢姆综合征相关的三种新的BLM基因突变。

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Human diseases deficient in RecQ helicases.缺乏RecQ解旋酶的人类疾病。

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Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.布卢姆综合征的临床特征及致病基因BLM解旋酶的功能

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Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.

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Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.遗传研究在意大利儿童矮小症队列诊断中的作用。

J Endocrinol Invest. 2024 May;47(5):1237-1250. doi: 10.1007/s40618-023-02243-9. Epub 2023 Dec 12.

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Congenital Telangiectatic Erythema: Scoping Review.先天性毛细血管扩张性红斑：范围综述

JMIR Dermatol. 2023 Oct 5;6:e48413. doi: 10.2196/48413.

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Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches.采用临床、内分泌学和遗传学方法对生长障碍进行综合评估。

本文引用的文献

1

Health supervision for people with Bloom syndrome.布卢姆综合征患者的健康监督。

Am J Med Genet A. 2018 Sep;176(9):1872-1881. doi: 10.1002/ajmg.a.40374. Epub 2018 Jul 28.

2

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.小于胎龄儿的矮小儿童中的布卢姆综合征：一项具有挑战性的诊断。

J Clin Endocrinol Metab. 2013 Oct;98(10):3932-8. doi: 10.1210/jc.2013-2491. Epub 2013 Aug 8.

3

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.布卢姆综合征登记处人群中BLM基因的致综合征突变。