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Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

Asma Smahi, Nina S. Heiss, Petra Kioschis et al. · Nature · 2000 · 743 citations

Life Sciences, Genetics, Molecular Biology +11

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

Ashish Jain, Chi Adrian, Shiyung Liu et al. · Nature Immunology · 2001 · 394 citations

Life Sciences, Genetics, Molecular Genetics +12

Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives

Tai Anh Phan, Orli Wargon, Anne Turner · Clinical and Experimental Dermatology · 2005 · 76 citations

Medicine, Dermatology, Dermatopathology +13

Incontinentia pigmenti in a newborn male infant with DNA confirmation

Jaclyn L. Roberts, Bernice E. Morrow, Carlos Vega‐Rich et al. · American Journal of Medical Genetics · 1998 · 34 citations

Life Sciences, Genetics, Molecular Genetics +11

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W. Lenz · PubMed · 1961 · 16 citations

Medicine, Dermatology, Genetics +8