TY  - JOUR
AU  - Bain, Jennifer M
AU  - Thornburg, Olivia
AU  - Pan, Cheryl
AU  - Rome-Martin, Donnielle
AU  - Boyle, Lia
AU  - Fan, Xiao
AU  - Devinsky, Orrin
AU  - Frye, Richard
AU  - Hamp, Silke
AU  - Keator, Cynthia G
AU  - LaMarca, Nicole M
AU  - Maddocks, Alexis B R
AU  - Madruga-Garrido, Marcos
AU  - Niederhoffer, Karen Y
AU  - Novara, Francesca
AU  - Peron, Angela
AU  - Poole-Di Salvo, Elizabeth
AU  - Salazar, Rachel
AU  - Skinner, Steven A
AU  - Soares, Gabriela
AU  - Goldman, Sylvie
AU  - Chung, Wendy K
PY  - 2021
DO  - 10.1212/NXG.0000000000000551
SN  - 2376-7839
UR  - https://hdl.handle.net/10668/27337
T2  - Neurology. Genetics
AB  - To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals. Participants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Genetics and...
LA  - en
TI  - Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
TY  - research article
VL  - 7
ER  -