A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference18 articles.
1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nat. Genet.,2003
2. Hirschsprung disease, associated syndromes and genetics: a review;Amiel;J. Med. Genet.,2008
3. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant;Bajaj;Pediatrics,2005
4. Congenital central hypoventilation syndrome;Berry-Kravis;Am. J. Respir. Crit. Care Med.,2006
5. Case report of Haddad syndrome in a newborn: congenital central hypoventilation syndrome and Hirschsprung's disease;Dejhalla;J. Perinatol.,2006
Cited by 5 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. Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature;Molecular Genetics & Genomic Medicine;2023-09-15
2. miR-103a-3p suppresses cell proliferation and migration in Hirschsprung’s disease partly by targeting PIK3R1;2023-03-24
3. Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature;Translational Pediatrics;2021-04
4. Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS;European Journal of Pediatrics;2020-10-28
5. Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases;Current Pediatric Reviews;2019-12-09
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