Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families

Daum, H., Ganapathi, M., Hirsch, Y., Griffin, E. L., LeDuc, C. A., Hagen, J., Yagel, S., Meiner, V., Chung, W. K., & Mor‐Shaked, H. (2021). Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families. American Journal of Medical Genetics Part A, 188(1), 336–342. Portico. https://doi.org/10.1002/ajmg.a.62513
Authors:
Hagit Daum
Mythily Ganapathi
Yoel Hirsch
Emily L. Griffin
Charles A. LeDuc
Jacob Hagen
Simcha Yagel
Vardiella Meiner
Wendy K. Chung
Hagar Mor-Shaked
Affiliated Authors:
Mythily Ganapathi
Emily L. Griffin
Charles A. LeDuc
Jacob Hagen
Wendy K. Chung
Columbia Affiliation:
Author Keywords:
ashkenazi jews
infantile-lethal disorder
microcephaly
neurodevelopmental disorder
pagr1
elink
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.62513
PMID:
34585832
DOI:
10.1002/ajmg.a.62513
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record

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