Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in <i>WDR81</i>-Reference-Cited by-同舟云学术

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

Published:2024-04-17 Issue: Volume: Page:
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:American J Hematol

Author:

Le Calvez Baptiste¹²^ORCID,Besnard Thomas³,Cogne Benjamin³,Bézieau Stéphane³,Béné Marie C.²,Beneteau Claire³⁴,Eveillard Marion²⁵^ORCID

Affiliation:

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

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.27330

Reference10 articles.

1. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

2. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

3. A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

4. WDR81 Is Necessary for Purkinje and Photoreceptor Cell Survival

5. Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

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