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

• Main Authors: Nehla Ghedira (Author), Arnaud Lagarde (Author), Karim Ben Ameur (Author), Sahar Elouej (Author), Rania Sakka (Author), Emna Kerkeni (Author), Fatma-Zohra Chioukh (Author), Sylviane Olschwang (Author), Jean-Pierre Desvignes (Author), Sonia Abdelhak (Author), Valerie Delague (Author), Nicolas Lévy (Author), Kamel Monastiri (Author), Annachiara De Sandre-Giovannoli (Author)
• Format: Bog
• Udgivet: BMC, 2018-08-01T00:00:00Z.
• Fag: article
• Online adgang: Connect to this object online.

Abstract 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. C...