{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:56:32Z","timestamp":1791291392709,"version":"4.3.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2001,12,1]],"date-time":"2001-12-01T00:00:00Z","timestamp":1007164800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4248,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,12]]},"DOI":"10.1086\/324591","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T17:28:29Z","timestamp":1033406909000},"page":"1210-1217","source":"Crossref","is-referenced-by-count":156,"title":["Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome"],"prefix":"10.1016","volume":"69","member":"78","reference":[{"key":"10.1086\/324591_bib3","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1086\/318806","article-title":"Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-\u03b3)","volume":"68","author":"Aradhya","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/324591_bib4","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1001\/archderm.1976.01630280059017","article-title":"Incontinentia pigmenti. A world statistical analysis","volume":"112","author":"Carney","year":"1976","journal-title":"Arch Dermatol"},{"key":"10.1086\/324591_bib5","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/S0140-6736(00)02661-1","article-title":"Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males","volume":"356","author":"Clayton-Smith","year":"2000","journal-title":"Lancet"},{"key":"10.1086\/324591_bib6","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","article-title":"X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-\u03baB signaling","volume":"27","author":"Doffinger","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/324591_bib7","doi-asserted-by":"crossref","first-page":"180","DOI":"10.3928\/0191-3913-19920501-13","article-title":"Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome","volume":"29","author":"Fowell","year":"1992","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1086\/324591_bib8","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.1399-0004.1990.tb03561.x","article-title":"Incontinentia pigmenti: XXY male with a family history","volume":"38","author":"Garcia-Dorado","year":"1990","journal-title":"Clin Genet"},{"key":"10.1086\/324591_bib9","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1093\/hmg\/9.13.1951","article-title":"The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism","volume":"9","author":"Has","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1086\/324591_bib10","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/35013114","article-title":"Genomic rearrangement in NEMO impairs NF-\u03baB activation and is a cause of incontinentia pigmenti","volume":"405","author":"International Incontinentia Pigmenti Foundation, The","year":"2000","journal-title":"Nature"},{"key":"10.1086\/324591_bib11","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/85277","article-title":"Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia","volume":"2","author":"Jain","year":"2001","journal-title":"Nat Immunol"},{"key":"10.1086\/324591_bib12","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1136\/jmg.32.11.887","article-title":"Gonadal mosaicism for incontinentia pigmenti in a healthy male","volume":"32","author":"Kirchman","year":"1995","journal-title":"J Med Genet"},{"key":"10.1086\/324591_bib13","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/BF00393976","article-title":"Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger","volume":"35","author":"Kunze","year":"1977","journal-title":"Hum Genet"},{"key":"10.1086\/324591_bib14","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1136\/jmg.30.1.53","article-title":"Incontinentia pigmenti (Bloch-Sulzberger syndrome)","volume":"30","author":"Landy","year":"1993","journal-title":"J Med Genet"},{"key":"10.1086\/324591_bib15","first-page":"690","article-title":"Letter: Half chromatid mutations may explain incontinentia pigmenti in males","volume":"27","author":"Lenz","year":"1975","journal-title":"Am J Hum Genet"},{"key":"10.1086\/324591_bib16","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO;2-Y","article-title":"Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection","volume":"99","author":"Mansour","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1086\/324591_bib17","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1182\/blood.V96.8.2905","article-title":"De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism","volume":"96","author":"Oldenburg","year":"2000","journal-title":"Blood"},{"key":"10.1086\/324591_bib18","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1136\/jmg.24.7.439","article-title":"Incontinentia pigmenti in a boy with Klinefelter's syndrome","volume":"24","author":"Ormerod","year":"1987","journal-title":"J Med Genet"},{"key":"10.1086\/324591_bib19","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/hmg\/5.11.1777","article-title":"Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2","volume":"5","author":"Parrish","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/324591_bib20","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/S0190-9622(89)70114-6","article-title":"Incontinentia pigmenti in a male infant with Klinefelter syndrome","volume":"20","author":"Prendiville","year":"1989","journal-title":"J Am Acad Dermatol"},{"key":"10.1086\/324591_bib21","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/26261","article-title":"IKK-\u03b3 is an essential regulatory subunit of the I\u03baB kinase complex","volume":"395","author":"Rothwarf","year":"1998","journal-title":"Nature"},{"key":"10.1086\/324591_bib22","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1101\/gad.14.7.854","article-title":"Severe liver degeneration and lack of NF-\u03baB activation in NEMO\/IKK\u03b3-deficient mice","volume":"14","author":"Rudolph","year":"2000","journal-title":"Genes Dev"},{"key":"10.1086\/324591_bib23","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<201::AID-AJMG5>3.0.CO;2-S","article-title":"Male cases of incontinentia pigmenti: case report and review","volume":"77","author":"Scheuerle","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1086\/324591_bib24","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/BF00221958","article-title":"Exclusion mapping of the X-linked dominant chondrodysplasia punctata\/ichthyosis\/cataract\/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation","volume":"89","author":"Traupe","year":"1992","journal-title":"Hum Genet"},{"key":"10.1086\/324591_bib25","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1126\/science.274.5288.787","article-title":"Suppression of TNF-\u03b1-induced apoptosis by NF-\u03baB","volume":"274","author":"Van Antwerp","year":"1996","journal-title":"Science"},{"key":"10.1086\/324591_bib26","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1034\/j.1399-0004.1999.550110.x","article-title":"X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation","volume":"55","author":"Woffendin","year":"1999","journal-title":"Clin Genet"},{"key":"10.1086\/324591_bib27","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1016\/S0092-8674(00)81466-X","article-title":"Complementation cloning of NEMO, a component of the I\u03baB kinase complex essential for NF-\u03baB activation","volume":"93","author":"Yamaoka","year":"1998","journal-title":"Cell"},{"key":"10.1086\/324591_bib28","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/316914","article-title":"A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)","volume":"67","author":"Zonana","year":"2000","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707612506?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707612506?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,7]],"date-time":"2024-01-07T04:37:14Z","timestamp":1704602234000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707612506"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2001,12]]}},"alternative-id":["S0002929707612506"],"URL":"https:\/\/doi.org\/10.1086\/324591","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,12]]}}}