Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies andNPHP3mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies andNPHP3mutation

Published:2013-05-17 Issue:7 Volume:161 Page:1743-1749
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Copelovitch Lawrence¹,O'Brien Maureen M.²,Guttenberg Marta³,Otto Edgar A.⁴,Kaplan Bernard S.¹

Affiliation:

1. Division of Nephrology, The Children's Hospital of Philadelphia; Philadelphia, Pennsylvania

2. Division of Oncology, Cincinnati Children's Hospital Medical Center; Cincinnati, Ohio

3. Department of Pathology, The Children's Hospital of Philadelphia; Philadelphia, Pennsylvania

4. Department of Pediatrics, University of Michigan; Ann Arbor, Michigan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35958/fullpdf

Reference21 articles.

1. Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Islands: A ciliopathy;Alessandri;Clin Dysmorphol,2009

2. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel Syndrome;Baala;Am J Hum Genet,2007

3. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: A new syndrome;Balci;Am J Med Genet,1999

4. New syndrome? Three siblings diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts;Balci;Am J Med Genet,2000

5. Loss of Nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, Situs inversus, and renal-hepatic pancreatic dysplasia;Bergmann;Am J Hum Genet,2008

Cited by 7 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. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17

2. Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature;BMC Pediatrics;2022-10-18

3. Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia;Kidney International;2021-02

4. The Paucity of Interlobular Bile Ducts;Liver Diseases;2020

5. Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology;Journal of Pediatric Genetics;2019-11-11

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