Alström综合征的形态和功能研究：两个家族的研究

资源简介

Alström综合征的形态和功能研究：两个家族的研究

【数据集背景】

本数据集源站标题为《Morphological and functional findings in Alström syndrome: a study of two families》。配套论文《Morphological and functional findings in Alström syndrome: a study of two

families》发表于 Arquivos Brasileiros de Oftalmologia（2018），DOI：10.5935/0004-2749.20180102。源站首次发布：2018-10-24。

【数据内容】

源站原始描述：ABSTRACT Alström syndrome is a rare disorder characterized by mutations to the ALMS1 gene and clinical findings of childhood obesity, diabetes mellitus, dilated cardiomyopathy, sensorineural hearing loss, and progressive cone-rod dystrophy, which may result in blindness. Ocular manifestations occur in the first decade of life with nystagmus, blepharospasm, and photophobia leading to progressive and severe reductions in visual acuity. This study describes the retinal structure and functional aspe…

【数据结构与技术规格】

文件数 4 个，合计 2.09 MB。数据集 DOI：10.6084/m9.figshare.7244522.v1。

【主题与分类】

源站学科分类：Ophthalmology。主题标签：Alström syndrome、Electrophysiology、Autofluorescence、Optical coherence tomography、Retinal dystrophy。

【适用方向】

源站学科分类标注为 Ophthalmology。

【获取与许可】

源站页面：https://scielo.figshare.com/articles/dataset/Morphological_and_functional_findings_in_Alstr_m_syndrome_a_study_of_two_families/7244522

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Castro, Álvaro Buno Botentuit Serra de; Coronado, Bruno Nobre Lins; Costa, Ráysa Hellen Assunção; Chalita, Maria Regina; Cella, Wener Passarinho; Avila, Marcos Pereira de (2018). Morphological and functional findings in Alström syndrome: a study of two families. SciELO journals. Dataset

【使用注意】

· 源站最后修改于 2023-06-02，引用时请注意版本时效。