Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report

[1] Fusco F(2007)Clinical diagnosis of incontinentia pigmenti in a cohort of male patients J Am Acad Dermatol 56 264-267

[2] Fimiani G(2014)Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease Hum Mutat 35 165-177

[3] Tadini G(2001)Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes Hum Mol Genet 10 2557-2567

[4] Michele D(2004)Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation Hum Mol Genet 13 1763-1773

[5] Ursini MV(2012)Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms Hum Mol Genet 21 1260-1271

[6] Conte M(2003)Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ gene deletion Hum Mutat 21 8-11

[7] Pescatore A(1992)Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation Am J Hum Genet 51 1229-1239

[8] Paciolla M(2017)Unusual father-to-daughter transmission of Incontinentia Pigmenti due to mosaicism in IP males Pediatrics. 140 e20162950-undefined

[9] Esposito E(undefined)undefined undefined undefined undefined-undefined

[10] Miano MG(undefined)undefined undefined undefined undefined-undefined

[1] Fusco F(2007)Clinical diagnosis of incontinentia pigmenti in a cohort of male patients J Am Acad Dermatol 56 264-267

[2] Fimiani G(2014)Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease Hum Mutat 35 165-177

[3] Tadini G(2001)Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes Hum Mol Genet 10 2557-2567

[4] Michele D(2004)Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation Hum Mol Genet 13 1763-1773

[5] Ursini MV(2012)Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms Hum Mol Genet 21 1260-1271

[6] Conte M(2003)Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ gene deletion Hum Mutat 21 8-11

[7] Pescatore A(1992)Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation Am J Hum Genet 51 1229-1239

[8] Paciolla M(2017)Unusual father-to-daughter transmission of Incontinentia Pigmenti due to mosaicism in IP males Pediatrics. 140 e20162950-undefined

[9] Esposito E(undefined)undefined undefined undefined undefined-undefined

[10] Miano MG(undefined)undefined undefined undefined undefined-undefined