Generalisierte arterielle Kalzifikation im frühen Kindesalter 1 ist eine autosomal rezessive Erkrankung die durch Mutationen im ENPP1-Gen hervorgerufen wird. Der klinische Verlauf ist selbst unter Geschwistern variabel.
Generalisierte arterielle Verkalkung bei Kleinkindern | ||||
Generalisierte arterielle Verkalkung bei Kleinkindern 1 | ||||
ENPP1 | ||||
Generalisierte arterielle Verkalkung bei Kleinkindern 2 | ||||
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OMIM.ORG article Omim 208000 |