Cargando…
The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation....
Autores principales: | Zanetti Drumond, Victor, Sousa Salgado, Lucas, Sousa Salgado, Camila, Oliveira, Vitor Augusto de Lima, de Assis, Eliene Magda, Campos Ribeiro, Michel, Furtado Valadão, Analina, Orrico, Alfredo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953535/ https://www.ncbi.nlm.nih.gov/pubmed/33762894 http://dx.doi.org/10.1155/2021/6652957 |
Ejemplares similares
-
Aarskog-Scott syndrome: An unusual cause of scoliosis
por: Sariyilmaz, Kerim, et al.
Publicado: (2017) -
Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome
por: Pérez-Coria, Mariana, et al.
Publicado: (2015) -
9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome
por: Aranha, Andreza-Maria-Fábio, et al.
Publicado: (2023) -
Aarskog-Scott Syndrome: A Review and Case Report
por: Closs, Luciane Q, et al.
Publicado: (2012) -
FGD1 Variant Associated With Aarskog–Scott Syndrome
por: Zhu, Yilin, et al.
Publicado: (2022)