Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

Generalized arterial calcifications of infancy (GACI) is caused by mutations in ENPP1. Other ENPP1-related phenotypes include pseudoxanthoma elasticum, hypophosphatemic rickets, and Cole disease. We studied four children from two Bedouin consanguineous families who presented with severe clinical phe...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Staretz-Chacham, Orna, Shukrun, Rachel, Barel, Ortal, Pode-Shakked, Ben, Pleniceanu, Oren, Anikster, Yair, Shalva, Nechama, Ferreira, Carlos R., Kadosh, Admit Ben-Haim, Richardson, Justin, Mane, Shrikant M., Hildebrandt, Friedhelm, Vivante, Asaf
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6886884/
https://ncbi.nlm.nih.gov/pubmed/31444901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61334
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