Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism

Childhood overgrowth syndromes are relatively rare. A generalized overgrowth syndrome should be suspected when tall stature and macrocephaly are present, after ruling out nutritional excess and endocrinopathies. Sotos syndrome is a well-described overgrowth syndrome due to haploinsufficiency of the...

Descripción completa

Detalles Bibliográficos
Autores principales: Verma, Arushi, Salehi, Parisa, Hing, Anne, Curda Roberts, Alissa Jeanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319649/
https://www.ncbi.nlm.nih.gov/pubmed/34350334
http://dx.doi.org/10.1016/j.ijpam.2020.06.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8319649/
https://www.ncbi.nlm.nih.gov/pubmed/34350334
http://dx.doi.org/10.1016/j.ijpam.2020.06.001

Ejemplares similares