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Capillary Malformation–Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of RASA1 and NOTCH2

Background: Capillary malformation–arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by CMs, often in association with fast-flow vascular malformations. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic,...

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Pubblicato in:Front Genet
Autori principali: Zheng, Yu, Peng, Yuming, Zhang, Shuju, Li, Liping, Peng, Yu, Yin, Qiang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848451/
https://ncbi.nlm.nih.gov/pubmed/31749841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01088
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