Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

Author:

Dallaire L

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. A syndrome characterized by mental retardation, short stature, craniofacial dysplasia and genital anomalies occurring in siblings;Blair, H.R.; Martin, J.K.;J. Pediat,1966

2. The syndrome of retardation with urogenital and skeletal anomalies in siblings;Dallaire, L.; Fraser, F.C.;ibid,1966

3. Smith-Lemliciprocal translocation in the parents, involving, for instance, chromosome 18 and another autosome, Opitz syndrome. Radiologic and postmortem findings;Fine, R.N.; Gwinn, J.L.; Young, E.F.;Amer. J. Dis. Child,1968

4. A case of the Smith-Lemli-Opitz syndrome of might remain undetectable in the affected child and the carrier parent. Furthermore, this would lead to the production of deficient or disomic gametes: it would then be expected that variations in the phenotype would occur between families, because of multiple congenital anomalies in association with dysplasia epiphysialis punctata;Gibson, R.;Canad. med. Ass. J,1965

5. A familial syndrome of mental retardation in asssociation with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz;Kenis, H.; Hustinx, W.J.;Maandschr. Kindergeneesk,1967

Cited by 46 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. Smith–Lemli–Opitz syndrome;Expert Reviews in Molecular Medicine;2011-07

2. Amniotic Fluid;Genetic Disorders and the Fetus;2010-09-24

3. THE SMITH-LEMLI-OPITZ SYNDROME IN A PROFOUNDLY RETARDED EPILEPTIC BOY;Journal of Intellectual Disability Research;2010-07-22

4. Smith-Lemli-Opitz Syndrome: Neuropathological and Ophthalmological Observations;Developmental Medicine & Child Neurology;2008-11-12

5. Neurological Involvement in the Smith-Lemli-Opitz Syndrome: Clinical and Neuropathological Findings;Developmental Medicine & Child Neurology;2008-11-12

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