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Article

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.

BMC pediatrics - 13 Nov 2024

Noor Ul Ayan Hafiza, Nitschke Yvonne, Mughal Abdul Razzaq, Thiele Holger, Malik Naveed Altaf, Hussain Ijaz, Haider Syed Muhammad Ijlal, Rutsch Frank, Erdmann Jeanette, Tariq Muhammad, Aherrahrou Zouhair, Ahmad Ilyas

Abstract excerpt

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) plays a critical role by converting extracellular ATP to AMP, generating extracellular PPi, a potential inhibitor of calcification. Pathogenic variants in the ENPP1 cause generalized arterial calcification of infancy (GACI [OMIM 208000]). GACI, is an ultra-rare disease characterized by early-onset calcification of large and medium-sized arteries, leading...

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PMID: 39538190
DOI: 10.1186/s12887-024-05123-0
PMCID: PMC11558987

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