Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

Hodgson, A. K. O., Baxandall, L., Aiyedun, D., Li, A., Au, P. Y. B., Bain, J. M., Gillentine, M. A., Goel, H., Kline, A. D., Ricupero, C. L., Sánchez‐Carpintero, R., Seward, E. P., Sidlow, R., Wilson, S. A., & Balasubramanian, M. (2025). Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review. American Journal of Medical Genetics Part A. Portico. https://doi.org/10.1002/ajmg.a.64013
Authors:
A K O Hodgson
L Baxandall
D Aiyedun
A Li
P Y B Au
J M Bain
M A Gillentine
H Goel
A D Kline
C L Ricupero
R Sánchez-Carpintero
E P Seward
R Sidlow
S A Wilson
M Balasubramanian
Affiliated Authors:
J M Bain
C L Ricupero
Columbia Affiliation:
Subjects:
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Author Keywords:
hnrnpu
familial inheritance
global developmental delay
intellectual disability
elink
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.64013
PMID:
39976380
DOI:
10.1002/ajmg.a.64013
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record

Record Created: