Utility of molecular studies in incontinentia pigmenti patients.

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dc.contributor.authorThakur, Seema
dc.contributor.authorPuri, Ratna D
dc.contributor.authorKohli, Sudha
dc.contributor.authorSaxena, Renu
dc.contributor.authorVerma, I C
dc.date.accessioned2011-12-05T09:36:43Z
dc.date.available2011-12-05T09:36:43Z
dc.date.issued2011-04
dc.description.abstractThe 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 genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.en_US
dc.identifier.citationThakur Seema, Puri Ratna D, Kohli Sudha, Saxena Renu, Verma I C. Utility of molecular studies in incontinentia pigmenti patients. Indian Journal of Medical Research. 2011 Apr; 133(4): 442-445.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/135673
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103180/en_US
dc.subjectIncontinentia pigmenti (IP)en_US
dc.subjectNEMO geneen_US
dc.subjectskin lesionsen_US
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshFemale
dc.subject.meshGenetic Counseling
dc.subject.meshGenetic Services
dc.subject.meshHumans
dc.subject.meshI-kappa B Kinase --genetics
dc.subject.meshIncontinentia Pigmenti --diagnosis
dc.subject.meshIncontinentia Pigmenti --genetics
dc.subject.meshInfant
dc.subject.meshMutation --genetics
dc.subject.meshNuclear Family
dc.subject.meshPedigree
dc.subject.meshPregnancy
dc.subject.meshPregnancy Complications --genetics
dc.subject.meshPrenatal Diagnosis
dc.subject.meshSequence Deletion --genetics
dc.titleUtility of molecular studies in incontinentia pigmenti patients.en_US
dc.typeArticleen_US
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