Bernard-Soulier syndrome: first human case due to a homozygous deletion of GP9 gene

Br J Haematol. 2020 Mar;188(6):e87-e90. doi: 10.1111/bjh.16374. Epub 2020 Feb 6.

Affiliations

¹ UMR 1062 NORT, INSERM, Marseille, France.
² Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France.
³ Genetic Department, La Timone, University Hospital of Marseille, Marseille, France.
⁴ Hematology Laboratory, La Timone University Hospital of Marseille, Marseille, France.
⁵ Department of Pediatric Hematology, La Timone Hospital, Marseille, France.

PMID: 32030720
DOI: 10.1111/bjh.16374

No abstract available

Keywords: platelet aggregation; platelet disorders; platelet genetic diseases; platelet membrane; thrombocytopenia.

Publication types

Case Reports

MeSH terms

Bernard-Soulier Syndrome / genetics*
Bernard-Soulier Syndrome / pathology
Bone Marrow / pathology
Humans
Infant, Newborn
Male
Pedigree
Platelet Glycoprotein GPIb-IX Complex / genetics
Sequence Deletion

Substances

Platelet Glycoprotein GPIb-IX Complex