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Complications in Diagnosis of Susceptible Cases of Fragile X Syndrome.

作者信息

Jafarzadeh Esfehani Reza, Dastpak Mahtab, Mirinezhad Mohammad Reza, Sadr-Nabavi Ariane

机构信息

Dept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Medical Genetic Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Iran J Public Health. 2018 Jul;47(7):1058-1060.

PMID:30182013
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6119569/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b8d/6119569/6af726368ef3/IJPH-47-1058-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b8d/6119569/6af726368ef3/IJPH-47-1058-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b8d/6119569/6af726368ef3/IJPH-47-1058-g001.jpg

相似文献

1
Complications in Diagnosis of Susceptible Cases of Fragile X Syndrome.脆性X综合征易感病例诊断中的并发症
Iran J Public Health. 2018 Jul;47(7):1058-1060.
2
Fragile-X syndrome in east Finland: molecular approach to genetic and prenatal diagnosis.芬兰东部的脆性X综合征:遗传和产前诊断的分子方法
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本文引用的文献

1
Prevalence of intellectual disability in Iran: Toward a new conceptual framework in data collection.伊朗智力残疾的患病率:迈向数据收集的新概念框架。
J Res Med Sci. 2015 Jul;20(7):714-5. doi: 10.4103/1735-1995.166234.
2
Facial analysis technology aids diagnoses of genetic disorders: applications narrow down potential genetic syndromes by matching facial phenotypes to distinct set of possible genetic conditions.面部分析技术有助于诊断遗传疾病:通过将面部表型与不同的可能遗传病症进行匹配,该技术的应用缩小了潜在遗传综合征的范围。
Am J Med Genet A. 2014 Oct;164A(10):vii-viii. doi: 10.1002/ajmg.a.36755.
3
Comprehensive evaluation of the child with intellectual disability or global developmental delays.
对智力残疾或全面发育迟缓儿童的综合评估。
Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839.
4
Investigation of genetic causes of intellectual disability in kerman province, South East of iran.伊朗东南部克尔曼省智力残疾遗传病因的调查
Iran Red Crescent Med J. 2012 Feb;14(2):79-85. Epub 2012 Feb 1.
5
Health supervision for children with fragile X syndrome.脆性 X 综合征患儿的健康监督。
Pediatrics. 2011 May;127(5):994-1006. doi: 10.1542/peds.2010-3500. Epub 2011 Apr 25.
6
No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey.脆性X综合征的诊断年龄无变化:一项全国性家长调查的结果
Pediatrics. 2009 Aug;124(2):527-33. doi: 10.1542/peds.2008-2992. Epub 2009 Jul 5.
7
Delayed diagnosis of fragile X syndrome--United States, 1990-1999.脆性X综合征的延迟诊断——美国,1990 - 1999年
MMWR Morb Mortal Wkly Rep. 2002 Aug 23;51(33):740-2.