Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation

We report the case of a 19-years-old patient who presented with a perplexing variety of symptoms which included remarkable facial features, intellectual disability, granulomatous upper lip swelling (previously diagnosed as Melkersson–Rosenthal syndrome), Crohn’s-like disease, non-productive cough, a...

Descripción completa

Detalles Bibliográficos
Autores principales: Soukup, Daniel, Kuechler, Alma, Roesler, Joachim, Pichlmaier, Leopold, Eckerland, Maximillian, Olivier, Margarete, Stehling, Florian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170790/
https://www.ncbi.nlm.nih.gov/pubmed/30319683
http://dx.doi.org/10.3389/fgene.2018.00355

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170790/
https://www.ncbi.nlm.nih.gov/pubmed/30319683
http://dx.doi.org/10.3389/fgene.2018.00355

Ejemplares similares