Cargando…
Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems and is characterized by distinctive facial features, growth retardation, and developmental disabilities. The syndrome is caused by mutations in genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) involved in th...
Autores principales: | Pimentel Campillo, Jorge, Corona Castillo, Daneybi, Nunez, Marco, Finke Abbott, Ana, Pichardo, Jesús |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382790/ https://www.ncbi.nlm.nih.gov/pubmed/37519569 http://dx.doi.org/10.7759/cureus.41119 |
Ejemplares similares
-
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
por: Ansari, Morad, et al.
Publicado: (2014) -
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort
por: Li, Shuo, et al.
Publicado: (2020) -
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort
por: Li, Shuo, et al.
Publicado: (2019) -
Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology
por: Umbach, Alessandro, et al.
Publicado: (2022) -
Cornelia de lange syndrome
por: Tayebi, Naeimeh
Publicado: (2008)