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...

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Бібліографічні деталі
Автори:	Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Christoph Peter Bagowski, Moneef Shoukier, Francesca Rivieri, Massimo Soffiati, Mattia Barbareschi
Формат:	Artigo
Мова:	Inglês
Опубліковано:	MDPI AG 2021-06-01
Серія:	Diagnostics
Предмети:	GACI mutations <i>ENPP1</i> gene pathogenic variant autopsy arterial calcifications
Онлайн доступ:	https://www.mdpi.com/2075-4418/11/6/1034
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Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

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