Rud syndrome with focal cortical dysplasia: A case report

Author:

Marconi Sara,Cantalupo Gaetano,Marliani Federica,Toni Francesco,Capovilla Giuseppe,Lorenzetti Elena,Romeo Antonino,Michelucci Roberto,Rubboli Guido

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Et Tilfælde af Infantilisme med Tetani, Epilepsi, Polyneuritis, Ichthyosis og Anæmi af perniciøs Type;Rud;Hospitalstidende,1927

2. Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism;Marxmiller;Dev Med Child Neurol,1985

3. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy;Larbrisseau;Neuropediatrics,1982

4. A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram;Kaufman;Ophthal Genet,1998

5. A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy;Stoll;Ann Genet,1999

Cited by 4 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. RUD Syndrome;Genetic Syndromes;2023

2. Rud Syndrome;Neurocutaneous Disorders;2022

3. Defects of enzymes and structural proteins;Neurocutaneous Disorders;2016

4. Einar Rud and the syndrome that bears his name;European Journal of Dermatology;2011-11

同舟云学术

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