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Utility of molecular studies in incontinentia pigmenti patients

The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved gene...

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Detalles Bibliográficos
Autores principales: Thakur, Seema, Puri, Ratna D., Kohli, Sudha, Saxena, Renu, Verma, I.C.
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103180/
https://www.ncbi.nlm.nih.gov/pubmed/21537100