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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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2026-06-01
Series:	Frontiers in Medicine
Assuntos:	IKBKG/NEMO impaired intellectual development and distinctive facial features with or without cardiac defects Incontinentia Pigmenti IP mosaicism MED13L
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1819035/full
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