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Mots-clés associés à l'article
Diseases
nodular regenerative hyperplasia
alpha1-antitrypsin deficiency
SOX10-associated chronic intestinal pseudo-obstruction
CADASIL
Genetic diseases
CADASIL
Crigler-Najjar disease
partial deletion of 21q22.2-q22.3
cerebral capillary malformation
Metabolic pathway
plasmalogens
Smith-Lemli-Opitz syndrome
multiple acyl-CoA dehydrogenation deficiency
adult polyglucosan body disease
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Alpers syndrome
Etiology
germline mutations in mitochondrial polymerase gamma (
POLG
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