Neuroradiological findings in Alagille syndrome.
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ABSTRACT:
SUBMITTER: D'Amico A
PROVIDER: S-EPMC8722249 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Publications
Neuroradiological findings in Alagille syndrome.
D'Amico Alessandra A Perillo Teresa T Cuocolo Renato R Ugga Lorenzo L Di Dato Fabiola F Caranci Ferdinando F Iorio Raffaele R
The British journal of radiology 20211005 1129
Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of <i>Notch</i> pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia ...[more]
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