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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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Bibliografiske detaljer
Main Authors: Thakur, Seema, Puri, Ratna D., Kohli, Sudha, Saxena, Renu, Verma, I.C.
Format: Artigo
Sprog:Inglês
Udgivet: Medknow Publications 2011
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3103180/
https://ncbi.nlm.nih.gov/pubmed/21537100
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