Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Published 2016 View Full Article

  1. Home
  2. Publications
  3. Publication Search
  4. Publication Details
Title
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Authors
Keywords
transketolase deficiency, TKT, pentose phosphate pathway, congenital heart disease, neurodevelopmental disability
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 98, Issue 6, Pages 1235-1242
Publisher
Elsevier BV
Online
2016-06-03
DOI
10.1016/j.ajhg.2016.03.030

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Reprint

Contact the author

Discover Peeref hubs

Discuss science. Find collaborators. Network.

Join a conversation

Create your own webinar

Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.

Create Now
Webinars Posters Questions Hubs Funding Journals Articles Connect Collections Reviewers About Us FAQs Mobile App Privacy Policy Terms of Use
© Peeref 2019-2024. All rights reserved.