Generalized Arterial Calcification of Infancy (GACI)

Generalized arterial calcification of infancy (GACI) is an ultra-rare autosomal recessive disorder associated with pathogenic variants in ENPP1, the major gene involved in this condition, and in ABCC6, which is involved in a small fraction of affected individuals. Loss-of-function pathogenic variant...

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Bibliographische Detailangaben

Veröffentlicht in:	Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2024-09, Vol.31 (4), p.4S21-4S26
Hauptverfasser:	Baujat, Geneviève, Besançon, Alix
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCC6 Ectopic calcification ENPP1 GACI Humans Infant Multidrug Resistance-Associated Proteins - genetics Phosphoric Diester Hydrolases - genetics Pseudoxanthoma Elasticum - diagnosis Pseudoxanthoma Elasticum - genetics PXE Pyrophosphatases - genetics Vascular Calcification - diagnosis Vascular Calcification - genetics
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