Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene-Reference-Cited by-同舟云学术

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Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene

Published:2023-11-06 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Alasmari Badriah G,Rayees Syed,Althubaiti Sami,Elzubair Lina,Chendeb Safa

Publisher

Springer Science and Business Media LLC

Subject

Aerospace Engineering

Reference8 articles.

1. Gray platelet syndrome-unusual presentation with spontaneous splenic rupture: a case report and literature review;Barghouthi DI;J Investig Med High Impact Case Rep,2023

2. Gray platelet syndrome. (2023). https.//www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8697&Disease_Disease_Search_diseaseGroup=Grey-....

3. Gray platelet syndrome with severe thrombocytopenia: a novel NBEAL2 gene variant from India;Mevalegire Venkatagiri A;Indian J Hematol Blood Transfus,2022

4. VACTERL/VATER association;Solomon BD;Orphanet J Rare Dis,2011

5. Gray platelet syndrome;Ayaz F;Cukurova Med J,2017

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