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

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

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...

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Bibliographic Details
Main Authors: Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Pediatrics
Subjects:
Noonan syndrome
RAS-MAPK pathway
RAF1
Dysmorphism
Incontinentia Pigmenti
X-linked disorder
Online Access:http://link.springer.com/article/10.1186/s12887-018-1259-8

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