Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.
Bleeding
Blood Platelet Disorder
Hermansky-Pudlak Syndrome (HPS)
Platelet Function Test
Platelet δ-granules
Journal
Platelets
ISSN: 1369-1635
Titre abrégé: Platelets
Pays: England
ID NLM: 9208117
Informations de publication
Date de publication:
02 Oct 2020
02 Oct 2020
Historique:
pubmed:
28
12
2019
medline:
29
6
2021
entrez:
28
12
2019
Statut:
ppublish
Résumé
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human sequencing revealed a novel pathogenic homozygous variant (NM_032383.4:c.7>T, p.Gln3*) resulting in a premature stop codon at the amino acid 3. Moreover, our report highlights the importance of evaluating platelet function in children with OCA without bleeding diathesis to identify HPS early and prevent bleeding complications.
Identifiants
pubmed: 31880485
doi: 10.1080/09537104.2019.1704716
doi:
Substances chimiques
HPS3 protein, human
0
Intracellular Signaling Peptides and Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM