A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

Incontinentia Pigmenti (IP; OMIM#308300) and syndromic intellectual disability (ID) (MRFACD; OMIM#616789) are two genetically dominant rare diseases. Their phenotypes are characterized by distinctive clinical signs: IP is caused by skin and neuroectodermal abnormalities with highly variable expressi...

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Hauptverfasser:	Ezia Spinosa, Jeremie Rosain, Stefania Picascia, Michele Salvia, Alessandra Pescatore, Annalaura Torella, Giulio Piluso, Vincenzo Nigro, Vincenzo Piccolo, Andrea Diociaiuti, Immacolata Di Biase, May El Hachem, Maria B. Lioi, Paul Bastard, Matilde V. Ursini, Francesca Fusco
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2026-06-01
Schriftenreihe:	Frontiers in Medicine
Schlagworte:	IKBKG/NEMO impaired intellectual development and distinctive facial features with or without cardiac defects Incontinentia Pigmenti IP mosaicism MED13L
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1819035/full
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