Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant

Clin Dysmorphol. 2024 Apr 1;33(2):79-82. doi: 10.1097/MCD.0000000000000485. Epub 2023 Dec 14.

Authors

Himanshu Goel^{1

2}, Sheridan O'Donnell¹, Tony Roscioli³, Francesca Hart³

Affiliations

¹ Hunter Genetics, Waratah, NSW, Australia.
² University of Newcastle, Callaghan, NSW, Australia.
³ NSW Health Pathology, Randwick, NSW, Australia.

PMID: 38348832
DOI: 10.1097/MCD.0000000000000485

No abstract available

MeSH terms

Humans
Nuclear Proteins*
Repressor Proteins*

Substances

Nuclear Proteins
Repressor Proteins
NKAP protein, human