The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome

The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome

Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the five human RecQ helicases, RECQL3/BLM. The disord...

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Bibliographic Details
Main Authors: Ina-Ofelia FOCSA, Andreea TUTULAN-CUNITA, Anca PAVEL, Diana PREPELITA, Diana BRATU, Laurentiu Camil BOHILTEA, Danae STAMBOULI
Format: Article
Language:English
Published: Media Med Publicis 2022-09-01
Series:Modern Medicine
Subjects:
bloom syndrome
chromosomal instability
helicase
dna damage
cancer
sun sensitivity
Online Access:https://medicinamoderna.ro/wp-content/uploads/2022/09/The-Impact-of-Next-Generation-Sequencing-in-Diagnosis-and-Management-of-Rare-Diseases-Bloom-Syndrome.pdf

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https://medicinamoderna.ro/wp-content/uploads/2022/09/The-Impact-of-Next-Generation-Sequencing-in-Diagnosis-and-Management-of-Rare-Diseases-Bloom-Syndrome.pdf

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