Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81

Am J Hematol. 2024 Nov;99(11):2215-2218. doi: 10.1002/ajh.27330. Epub 2024 Apr 17.

Authors

Baptiste Le Calvez^{1

2}, Thomas Besnard³, Benjamin Cogne³, Stéphane Bézieau³, Marie C Béné², Claire Beneteau^{3

4}, Marion Eveillard^{2

5}

Affiliations

¹ Pediatric Oncology, Nantes University Hospital, Nantes, France.
² CRCI2NA, INSERM U1307, CNRS, Université d'Angers, Université de Nantes, Nantes, France.
³ Genetics Department, Nantes University Hospital, Nantes, France.
⁴ Genetics Department, Bordeaux University Hospital, Bordeaux, France.
⁵ Hematology Biology, Nantes University Hospital, Nantes, France.

PMID: 38629724
DOI: 10.1002/ajh.27330

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Cytoplasmic Granules* / genetics
Cytoplasmic Granules* / metabolism
Female
Humans
Male
Malformations of Cortical Development / genetics
Malformations of Cortical Development / pathology
Mutation