Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder-Reference-Cited by-同舟云学术

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

Published:2024-10 Issue:5 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Hildebrand Michael S.¹^ORCID,Braden Ruth O.¹^ORCID,Lauretta Mariana L.¹,Kaspi Antony¹,Leventer Richard J.¹^ORCID,Anderson Melinda¹,Goel Himanshu¹^ORCID,Bahlo Melanie¹^ORCID,Scheffer Ingrid E.¹^ORCID,Amor David J.¹,Janowski Robert¹^ORCID,Niessing Dierk¹^ORCID,Morgan Angela T.¹^ORCID

Affiliation:

1. From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200181

Reference15 articles.

1. Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

2. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

3. NCBI ClinVar. Accessed July 30 2023. ncbi.nlm.nih.gov/clinvar/

4. De novo mutations in PURA are associated with hypotonia and developmental delay

5. Whole exome sequencing in family trios revealsde novomutations inPURAas a cause of severe neurodevelopmental delay and learning disability