Work

A De novo Loss-of-Function Mutation in PAFAH1B1 Identified in a Single Case with Agyria–Pachygyria Complex

Year: 2019

Type: article

Source: Journal of Pediatric Neurology

DOI: 10.1055/s-0038-1677489

Authors: Yali Ou, Bingwu Xiang, Liu Yang, Wei Chen, Xiang Chen, Tao Cai

Institutions: National Institutes of Health, Central South University, National Institute of Dental and Craniofacial Research, Xiangya Hospital Central South University, Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Wenzhou Medical University

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Institutes of Health

OpenAlex ID: W2909591822

FWCI:

Cites: 29

Cited by: 1

Related to: 10