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Items: 10


A Case of a Surviving Male Infant with Incontinentia Pigmenti.

Song JY, Na CH, Chung BS, Choi KC, Shin BS.

Ann Dermatol. 2008 Sep;20(3):134-7. doi: 10.5021/ad.2008.20.3.134.


Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.

Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA; International IP Consortium..

Am J Hum Genet. 2001 Dec;69(6):1210-7.


Unstable mutation in incontinentia pigmenti?

Hatchwell E.

J Med Genet. 1996 Apr;33(4):349-50. No abstract available.


Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE.

J Med Genet. 1995 Nov;32(11):887-90.


Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Landy SJ, Donnai D.

J Med Genet. 1993 Jan;30(1):53-9. Review. No abstract available.


Studies of a family with incontinentia pigmenti variably expressed in both sexes.

Kurczynski TW, Berns JS, Johnson WE.

J Med Genet. 1982 Dec;19(6):447-51.


Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Hall JG.

Am J Hum Genet. 1988 Oct;43(4):355-63. Review. No abstract available.


Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

Migeon BR, Axelman J, Jan de Beur S, Valle D, Mitchell GA, Rosenbaum KN.

Am J Hum Genet. 1989 Jan;44(1):100-6.

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