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从加德纳纤维瘤诊断到胚系突变检测:一条单行道。

From Gardner fibroma diagnosis to constitutional mutation detection: a one-way street.

作者信息

Santoro Claudia, Giugliano Teresa, Bifano Delfina, D'Anna Carolina, D'Onofrio Vittoria, Perrotta Silverio

机构信息

Dipartimento della Donnadel Bambino e della Chirurgia generale e specialistica Università degli Studi della Campania Luigi Vanvitelli Naples Italy.

Dipartimento di Biochimica Biofisica e Patologia Generale Università degli Studi della Campania Luigi Vanvitelli Naples Italy.

出版信息

Clin Case Rep. 2017 Aug 10;5(10):1557-1560. doi: 10.1002/ccr3.1065. eCollection 2017 Oct.

Abstract

We report a young child without a family history of FAP, who promptly underwent testing after the histological confirmation of a paraspinal GAF that was not isolated. Our case report reinforces the suggestion advanced by previous authors for an analysis in all patients with GAF.

摘要

我们报告了一名无家族性腺瘤性息肉病(FAP)病史的幼儿,在组织学确诊为非孤立性椎旁胃肠道间质瘤(GAF)后迅速接受了检测。我们的病例报告强化了先前作者提出的对所有GAF患者进行分析的建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d654/5628198/219e97457491/CCR3-5-1557-g001.jpg

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