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Published on: May 31, 2016
Novel ENPP1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report
Haifa M AlTurki1, Haya S AlFaris1, Mohammed A Al-Owain2
1Department of Neuroscience, Centre for Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
None:
Generalized Arterial Calcification of Infancy (GACI), a complex disorder affecting multiple systems, stems from an autosomal recessive mutation in the ENPP1 gene. This condition is marked by arterial stenosis and usually manifests prenatally or in the initial months following birth. High mortality rates characterize the first few months, a phase often termed the "critical period." The report presents a case study of a four-year-old female with a new mutation in the ENPP1 gene, which broadens our understanding of this rare genetic disorder.
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