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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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim: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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