[阿佩尔综合征] - Suppr

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超能文献

[Apert syndrome].

作者信息

Benmiloud Sarra, Chaouki Sana, Atmani Samir, Hida Moustapha

机构信息

Service de pédiatrie, Hôpital Mère-Enfant, CHU Hassan II-Fès, Morocco.

出版信息

Pan Afr Med J. 2013;14:66. doi: 10.11604/pamj.2013.14.66.2178. Epub 2013 Feb 18.

DOI:10.11604/pamj.2013.14.66.2178

PMID:23565313

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3617707/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a2d6/3617707/28cc56e92478/PAMJ-14-66-g001.jpg

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[Apert syndrome].[阿佩尔综合征]

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本文引用的文献

[The Apert's syndrome hand: therapeutic management].[阿佩尔综合征手部：治疗管理]

Chir Main. 2008 Dec;27 Suppl 1:S115-20. doi: 10.1016/j.main.2008.07.014. Epub 2008 Aug 20.

Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.颅面手术后Apert综合征的眼科表现：29年经验

Ophthalmology. 2006 Feb;113(2):347-52. doi: 10.1016/j.ophtha.2005.10.011.

A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.具有S252W突变的可溶性成纤维细胞生长因子受体2（FGFR2）可作为一种有效抑制剂，抑制Apert综合征中FGFR2激活所导致的成骨细胞分化增强。

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Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment.阿佩尔综合征：相关脑畸形及手术治疗所致形态学改变的分析

J Neuroradiol. 2004 Mar;31(2):116-22. doi: 10.1016/s0150-9861(04)96978-7.

Apert syndrome and hearing loss with ear anomalies: a case report and literature review.Apert综合征与伴有耳部异常的听力损失：一例病例报告及文献综述

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Molecular genetics of craniosynostotic syndromes.颅缝早闭综合征的分子遗传学

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Visceral anomalies in the Apert syndrome.阿佩尔综合征中的内脏异常。

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