A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Authors

Zejuan Li
Rhonda Schonberg, George Washington University
Lucia Guidugli
Amy Knight Johnson
Stephen Arnovitz
Sandra Yang
Joseph Scafidi, George Washington University
Marshall L. Summar, George Washington University
Gilbert Vezina, George Washington UniversityFollow
Soma Das
Kimberly Chapman, George Washington UniversityFollow
Daniela Del Gaudio

Document Type

Journal Article

Publication Date

7-2015

Journal

Journal of Human Genetics

Volume

60

Issue

7

Inclusive Pages

363-369

DOI

10.1038/jhg.2015.31

Comments

This is an open access PubMed Central article.

APA Citation

Li, Z., Schonberg, R., Guidugli, L., Johnson, A. K., Arnovitz, S., Yang, S., . . . Del Gaudio, D. (2015). A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. Journal of Human Genetics, 60(7), 363-369.

Peer Reviewed

1

Open Access

1