Article
Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2013
Kunishima Shinji, Imai Tsuyoshi, Kobayashi Ryoji, Kato Motohiro, Ogawa Seishi, Saito Hidehiko
Abstract excerpt
BACKGROUND: Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by giant platelets, thrombocytopenia, and a prolonged bleeding time, which is caused by homozygous mutations in the GPIbα, GPIbβ, or GPIX genes. The 22q11.2 deletion syndrome (22q11.2DS) is caused by a microdeletion on chromosome 22, which includes the GPIbβ gene, and is characterized by abnormal development...
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