Cargando…
CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy
Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was d...
Autores principales: | Behr, Gerald G, Liberman, Leonardo, Compton, Jocelyn, Garzon, Maria C, Morel, Kimberly D, Lauren, Christine T, Starc, Thomas J, Kovacs, Stephen J, Beltroni, Vincent, Landres, Rachel, Anyane-Yeboa, Kwame, Meyers, Philip M, Bacha, Emile, Kandel, Jessica J |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517480/ https://www.ncbi.nlm.nih.gov/pubmed/23164092 http://dx.doi.org/10.1186/2045-824X-4-19 |
Ejemplares similares
-
A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
por: Lubell, Tamar, et al.
Publicado: (2009) -
Retinoblastoma Presenting in a Child with Hypomelanosis of Ito
por: El-Sawy, Tarek, et al.
Publicado: (2011) -
Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report
por: Censani, Marisa, et al.
Publicado: (2013) -
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities
por: Barua, Subit, et al.
Publicado: (2022) -
Combined treatment for a hemispheric cerebellar AVM
por: Loof de Amorim, Bruno, et al.
Publicado: (2021)