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Article

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.

Journal of medical genetics - 1 Aug 2017

Guey Stéphanie, Grangeon Lou, Brunelle Francis, Bergametti Françoise, Amiel Jeanne, Lyonnet Stanislas, Delaforge Audrey, Arnould Minh, Desnous Béatrice, Bellesme Céline, Hervé Dominique, Schwitalla Jan C, Kraemer Markus, Tournier-Lasserve Elisabeth, Kossorotoff Manoelle

Abstract excerpt

BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be...

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Source

Identifiers

PMID: 28343148
DOI: 10.1136/jmedgenet-2016-104432

Genes

CBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-28343148-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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