Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation

Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later rev...

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Detalles Bibliográficos
Autores principales: Minić, Snežana, Trpinac, Dušan, Novaković, Ivana, Cerovac, Nataša, Dobrosavljević Vukojević, Danijela, Rosain, Jérémie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318020/
https://www.ncbi.nlm.nih.gov/pubmed/35885615
http://dx.doi.org/10.3390/diagnostics12071711

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318020/
https://www.ncbi.nlm.nih.gov/pubmed/35885615
http://dx.doi.org/10.3390/diagnostics12071711

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