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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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Detalles Bibliográficos
Autores principales: Zheng, Yu, Peng, Yuming, Zhang, Shuju, Li, Liping, Peng, Yu, Yin, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848451/
https://www.ncbi.nlm.nih.gov/pubmed/31749841
http://dx.doi.org/10.3389/fgene.2019.01088