Recurrent infections and short stature â listening may be the key. A Bloom syndrome case report

Introduction: Bloom syndrome is a rare autosomal recessive disorder characterized by chromosomal instability caused by mutations in the BLM gene that increase the risk of developing neoplasia, particularly at an early age. Bloom syndrome is typically characterized by short stature, photosensitivity,...

Full description

Bibliographic Details

Published in:	Portuguese Journal of Pediatrics
Main Authors:	Margarida Almendra, Ana I. Cordeiro, Rosa Pina, Catarina Martins, Conceição Neves, João Farela-Neves
Format:	Article
Language:	English
Published:	Publicaciones Permanyer 2024-07-01
Subjects:	Bloom syndrome. Chromosomal instability. Sister chromatid exchange. Novel mutation. Case report.
Online Access:	https://pjp.spp.pt/frame_eng.php?id=81