Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

Generalized Arterial Calcification of Infancy (GACI) is a rare disease inherited in a recessive manner, with severe and diffuse early onset of calcifications along the internal elastic lamina in large and medium size arteries. The diagnosis results are from clinical manifestations, imaging, histopat...

詳細記述

書誌詳細

主要な著者:	Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Christoph Peter Bagowski, Moneef Shoukier, Francesca Rivieri, Massimo Soffiati, Mattia Barbareschi
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2021-06-01
シリーズ:	Diagnostics
主題:	GACI mutations <i>ENPP1</i> gene pathogenic variant autopsy arterial calcifications
オンライン･アクセス:	https://www.mdpi.com/2075-4418/11/6/1034
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