A Case of Bernard-Soulier Syndrome Associated with 22q11.2 Deletion Syndrome

A Case of Bernard-Soulier Syndrome Associated with 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by microdeletions in the long arm of chromosome 22. It is one of the most common chromosomal microdeletion disorders. Clinical symptoms are caused by heterozygous deletion of chromosome 22q11.2 and include congenital heart diseases and palat...

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Bibliographic Details
Main Authors: Oh Cheol Kwon, Su Hyun Yoon, Sung Han Kang, Hyery Kim, Kyung-Nam Koh, Ho Joon Im
Format: Article
Language:English
Published: The Korean Society of Pediatric Hematology-Oncology 2023-10-01
Series:Clinical Pediatric Hematology-Oncology
Subjects:
distal chromosome 22q11.2 deletion syndrome
bernard soulier syndrome
Online Access:https://doi.org/10.15264/cpho.2023.30.2.95

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