Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

Author:

al-Gazali L I,Donnai D,Mueller R F

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome;Rudiger, R.A.; Schmidt, W.; Loose, D.A.; Passarge, E.;J Pediatr,1971

2. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities;Fryns, J.P.; Moerman, F.; Goddeeris, P.; Bossuyt, C.; Van den Berghe, H.;Hum Genet,1979

3. Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities-a new lethal syndrome;disease, Hirschsprung's; hypoplastic nails; minor dysmorphic features Goddeeris P; JP, Fryns; den Berghe H, Van;J Genet Hum,1980

4. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome;Lubinsky, M.; Severn, C.; Rapoport, J.M.;Am J Med Genet,1983

5. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia;Meinecke, P.; Fryns, J.P.;Clin Genet,1985

Cited by 10 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. Hirschsprung disease, associated syndromes and genetics: a review;Journal of Medical Genetics;2007-10-26

2. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

3. Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement;American Journal of Medical Genetics Part A;2005-01-15

4. Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?;American Journal of Medical Genetics Part A;2005

5. Hirschsprung disease, associated syndromes, and genetics: a review;Journal of Medical Genetics;2001-11-01

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