Cargando…
Incontinentia Pigmenti in a Newborn with NEMO Mutation
Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and se...
Autores principales: | Lee, Young, Kim, Sooyeon, Kim, Kyunghee, Chang, Meayoung |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031021/ https://www.ncbi.nlm.nih.gov/pubmed/21286028 http://dx.doi.org/10.3346/jkms.2011.26.2.308 |
Ejemplares similares
-
NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti
por: Jiang, Jingjing, et al.
Publicado: (2022) -
The Common NF-κB Essential Modulator (NEMO) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti
por: Song, Min-Jung, et al.
Publicado: (2010) -
Incontinentia pigmenti
por: Poziomczyk, Cláudia Schermann, et al.
Publicado: (2014) -
Case Reports of Incontinentia Pigmenti in Males
por: Gupta, Khushboo D, et al.
Publicado: (2013) -
Retinopathy in incontinentia pigmenti
por: Rishi, Pukhraj, et al.
Publicado: (2019)