Article
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
International journal of hematology - 1 May 2024
Ohashi Takuma, Kunimoto Hiroyoshi, Nukui Jun, Teshigawara Haruka, Koyama Satoshi, Miyazaki Takuya, Hagihara Maki, Matsumoto Kenji, Koshimizu Eriko, Tsuchida Naomi, Hamanoue Haruka, Miyatake Satoko, Yachie Akihiro, Matsumoto Naomichi, Nakajima Hideaki
Abstract excerpt
Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. BS is characterized by distinct facial features, elongated limbs, and various dermatological complications including photosensitivity, poikiloderma, and telangiectatic erythema. The BLM gene encodes a RecQ helicase critical for genome maintenance, stability, and repair, and a deficiency in functional BLM protein...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.