Two siblings with microcephaly associated with calcification of cerebral white matter
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical)
Link
http://www.nature.com/articles/jhg198519.pdf
Reference18 articles.
1. Bundey, S. and Griffiths, M.I. 1977. Recurrence risks in families of children with symmetrical spasticity.Develop. Med. Child Neurol. 19: 179–191.
2. Cantu, J.M., Rojas, J.A., Garcia-Gruz, D., Hernandez, A., Pagan, P., Fragosa, R., and Manzano, C. 1977. Autosomal recessive microcephaly associated with chorioretinopathy.Hum. Genet. 36: 243–247.
3. Collis, A.T. and Gromwell, L.D. 1980. Computed tomography in the evaluation of congenital cerebral toxoplasmosis.J. Comput. Assist. Tomogr. 4: 326–329.
4. Cockayne, E.A. 1949. Dwarfism with retinal atrophy and deafness.Arch. Dis. Child. 21: 52.
5. Dolman, L. and Wright, V.J. 1978. Necropsy of original case of Lowry's syndrome.J. Med. Genet. 15: 227–245.
Cited by 21 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes;Developmental Medicine & Child Neurology;2013-12-30
2. Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome;American Journal of Medical Genetics Part A;2008-11-15
3. COFS syndrome with familial 1;16 translocation;Clinical Genetics;2008-06-28
4. Microcephaly and intracranial calcification: two new cases;Clinical Genetics;2008-06-28
5. Severe Form of Cockayne Syndrome With Varying Clinical Presentation and No Photosensitivity in a Family;Journal of Child Neurology;2006-04
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3