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...

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Vydáno v:Front Genet
Hlavní autoři: Soukup, Daniel, Kuechler, Alma, Roesler, Joachim, Pichlmaier, Leopold, Eckerland, Maximillian, Olivier, Margarete, Stehling, Florian
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6170790/
https://ncbi.nlm.nih.gov/pubmed/30319683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00355
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