Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder. CASE PRES...

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Detalles Bibliográficos
Autores principales: Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116546/
https://www.ncbi.nlm.nih.gov/pubmed/30157809
http://dx.doi.org/10.1186/s12887-018-1259-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116546/
https://www.ncbi.nlm.nih.gov/pubmed/30157809
http://dx.doi.org/10.1186/s12887-018-1259-8

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