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Bruck syndrome: a rare cause of reduced fetal movements

Authors :
Sukanta Ray
Sabnam Parvin
Arkadeep Dhali
Dijendra Nath Biswas
Source :
BMJ case reports. 14(12)
Publication Year :
2023

Abstract

Bruck syndrome is an autosomal recessive disease characterised by the clinical combination of both osteogenesis imperfecta and arthrogryposis multiplex congenita (AMC). It is caused due to collagen miss-folding and cross-linking defect resulting from a deletion in FKBP10 (OMIM #259450) and/or PLOD2

Details

ISSN :
1757790X
Volume :
14
Issue :
12
Database :
OpenAIRE
Journal :
BMJ case reports
Accession number :
edsair.doi.dedup.....eb45c04e3fe703022af46fccef89ceca