Cargando…
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
BACKGROUND: Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-No...
Autores principales: | Santoro, Claudia, Pacileo, Giuseppe, Limongelli, Giuseppe, Scianguetta, Saverio, Giugliano, Teresa, Piluso, Giulio, Ragione, Fulvio Della, Cirillo, Mario, Mirone, Giuseppe, Perrotta, Silverio |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005403/ https://www.ncbi.nlm.nih.gov/pubmed/24767283 http://dx.doi.org/10.1186/1471-2350-15-44 |
Ejemplares similares
-
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
por: Santoro, Claudia, et al.
Publicado: (2018) -
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
por: Santoro, Claudia, et al.
Publicado: (2018) -
Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
por: Punzo, Francesca, et al.
Publicado: (2011) -
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
por: Calcagni, Giulio, et al.
Publicado: (2017) -
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
por: Giugliano, Teresa, et al.
Publicado: (2019)