A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Kalmár Tibor and Szakszon Katalin and Maróti Zoltán and Zimmermann Aliz and Máté Adrienn and Zombor Melinda and Bereczki Csaba and Sztriha László: A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
JOURNAL OF PEDIATRIC GENETICS, 10 (2). pp. 159-163. ISSN 2146-4596 (2021)

[thumbnail of ANovelHomozygousFrameshiftWDR81.pdf]
Preview
Text
ANovelHomozygousFrameshiftWDR81.pdf - Accepted Version

Download (1MB) | Preview
Item Type: Journal Article
Journal or Publication Title: JOURNAL OF PEDIATRIC GENETICS
Date: 2021
Volume: 10
Number: 2
Page Range: pp. 159-163
ISSN: 2146-4596
Faculty/Unit: Faculty of Medicine
Institution: Szegedi Tudományegyetem
Language: English
MTMT rekordazonosító: 31599322
DOI azonosító: https://doi.org/10.1055/s-0040-1712916
Date Deposited: 2021. Jan. 07. 12:17
Last Modified: 2021. Jul. 20. 08:47
URI: http://publicatio.bibl.u-szeged.hu/id/eprint/20149
Web of Science® Times Cited: 4 View citing articles in Web of Science®

Actions (login required)

View Item View Item

Downloads

Downloads per month over past year