Expanding the phenotypic spectrum of ARCN1-related syndrome

Ritter, A. L., Gold, J., Hayashi, H., Ackermann, A. M., Hanke, S., Skraban, C., Cuddapah, S., Bhoj, E., Li, D., Kuroda, Y., Wen, J., Takeda, R., Bibb, A., El Chehadeh, S., Piton, A., Ohl, J., Kukolich, M. K., Nagasaki, K., Kato, K., … Izumi, K. (2022). Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in Medicine, 24(6), 1227–1237. https://doi.org/10.1016/j.gim.2022.02.005
Authors:
Alyssa L Ritter
Jessica Gold
Hiroshi Hayashi
Amanda M Ackermann
Stephanie Hanke
Cara Skraban
Sanmati Cuddapah
Elizabeth Bhoj
Dong Li
Yukiko Kuroda
Jessica Wen
Ryojun Takeda
Audrey Bibb
Salima El Chehadeh
Amélie Piton
Jeanine Ohl
Mary K Kukolich
Keisuke Nagasaki
Kohji Kato
Tomoo Ogi
Tricia Bhatti
Pierre Russo
Bryan Krock
Jill R Murrell
Jennifer A Sullivan
Vandana Shashi
Nicholas Stong
Hakon Hakonarson
Kentaro Sawano
Erin Torti
Rebecca Willaert
Yue Si
William Ross Wilcox
Katrine Verena Wirgenes
Kristian Thomassen
Katherine Carlotti
Angelika Erwin
Joanna Lazier
Thorsten Marquardt
Miao He
Andrew C Edmondson
Kosuke Izumi
Affiliated Authors:
Nicholas Stong
Columbia Affiliation:
Subjects:
Cataract (MeSH)
Dwarfism (MeSH)
Hepatoblastoma (MeSH)
Intellectual Disability (MeSH)
Liver Neoplasms (MeSH)
Micrognathism (MeSH)
Author Keywords:
arcn1
copi
micrognathia
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2022.02.005
PMID:
35300924
DOI:
10.1016/j.gim.2022.02.005
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: