Work

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects

Year: 2016

Type: article

Study design: Case Report

Source: Neurogenetics

DOI: 10.1007/s10048-016-0482-4

Authors: David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark Hannibal, Bridget O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Brad Angle, Victoria Sanders, Yufeng Shen, Kyle Retterer, Amber Begtrup, Renkui Bai, Wendy K. Chung

Institutions: Columbia University Irving Medical Center, University of Michigan, Michigan Medicine, Washington University in St. Louis, University of Chicago, Northwestern University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Simons Foundation, Simmons Family Foundation

OpenAlex ID: W2336926899

FWCI: 2.148

Cites: 27

Cited by: 36

Related to: 10