Affordable Access

deepdyve-link
Publisher Website

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

Authors
  • Lin, Hsiang-Yu1
  • Chuang, Chih-Kuang2
  • Tu, Ru-Yi3
  • Fang, Yi-Ya3
  • Su, Yi-Ning4
  • Chen, Chih-Ping5
  • Chang, Chia-Ying6
  • Liu, Hsi-Che7
  • Chu, Tzu-Hung8
  • Niu, Dau-Ming9
  • Lin, Shuan-Pei10
  • 1 Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan. , (Taiwan)
  • 2 Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Medical College, Fu-Jen Catholic University, Taipei, Taiwan; Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan. , (Taiwan)
  • 3 Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan. , (Taiwan)
  • 4 Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. , (Taiwan)
  • 5 Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. , (Taiwan)
  • 6 Department of Pediatrics, Mackay Memorial Hospital, Hsinchu, Taiwan. , (Taiwan)
  • 7 Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan. , (Taiwan)
  • 8 Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. , (Taiwan)
  • 9 Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. , (Taiwan)
  • 10 Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address: [email protected] , (Taiwan)
Type
Published Article
Journal
Molecular Genetics and Metabolism
Publisher
Elsevier
Publication Date
Sep 01, 2016
Volume
119
Issue
1-2
Pages
8–13
Identifiers
DOI: 10.1016/j.ymgme.2016.07.003
PMID: 27436784
Source
Medline
Keywords
License
Unknown

Abstract

The BWS score was positively correlated with the molecular diagnosis rate (P<0.01). The BWS database of epigenotype, genotype, and phenotype is expected to promote better genetic counseling and medical care of these patients.

Report this publication

Statistics

Seen <100 times