Work

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Year: 2016

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2016.08.009

Authors: Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim O. Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al-Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

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: bronze

OpenAlex ID: W4241693089

FWCI: 1.332

Cites:

Cited by: 22

Related to: 10