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

• Main Authors: Hafiza Noor Ul Ayan (Author), Yvonne Nitschke (Author), Abdul Razzaq Mughal (Author), Holger Thiele (Author), Naveed Altaf Malik (Author), Ijaz Hussain (Author), Syed Muhammad Ijlal Haider (Author), Frank Rutsch (Author), Jeanette Erdmann (Author), Muhammad Tariq (Author), Zouhair Aherrahrou (Author), Ilyas Ahmad (Author)
• Format: Book
• Published: BMC, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 208...