. 1996 Apr;33(4):349–350. doi: 10.1136/jmg.33.4.349-a
Unstable mutation in incontinentia pigmenti?
E Hatchwell
E Hatchwell
Find articles by E Hatchwell
PMCID: PMC1050592 PMID: 8730298
See the article "Gonadal mosaicism for incontinentia pigmenti in a healthy male." in volume 32 on page 887.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Carney R. G. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol. 1976 Apr;112(4):535–542. [PubMed] [Google Scholar]
- Davie A. M., Emery A. E. Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy. J Med Genet. 1978 Oct;15(5):339–345. doi: 10.1136/jmg.15.5.339. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Emery M. M., Siegfried E. C., Stone M. S., Stone E. M., Patil S. R. Incontinentia pigmenti: transmission from father to daughter. J Am Acad Dermatol. 1993 Aug;29(2 Pt 2):368–372. doi: 10.1016/0190-9622(93)70198-3. [DOI] [PubMed] [Google Scholar]
- Fu Y. H., Kuhl D. P., Pizzuti A., Pieretti M., Sutcliffe J. S., Richards S., Verkerk A. J., Holden J. J., Fenwick R. G., Jr, Warren S. T. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 20;67(6):1047–1058. doi: 10.1016/0092-8674(91)90283-5. [DOI] [PubMed] [Google Scholar]
- Hecht F., Kaiser-McCaw B., Glover T., Austin W. Incontinentia pigmenti: occurrence in Arizona Indians and evidence against the half-chromatid mutation model. Birth Defects Orig Artic Ser. 1982;18(3B):89–92. [PubMed] [Google Scholar]
- Kirchman T. T., Levy M. L., Lewis R. A., Kanzler M. H., Nelson D. L., Scheuerle A. E. Gonadal mosaicism for incontinentia pigmenti in a healthy male. J Med Genet. 1995 Nov;32(11):887–890. doi: 10.1136/jmg.32.11.887. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kurczynski T. W., Berns J. S., Johnson W. E. Studies of a family with incontinentia pigmenti variably expressed in both sexes. J Med Genet. 1982 Dec;19(6):447–451. doi: 10.1136/jmg.19.6.447. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lenz W. Letter: Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet. 1975 Sep;27(5):690–691. [PMC free article] [PubMed] [Google Scholar]
- Traupe H., Vehring K. H. Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males. Am J Med Genet. 1994 Feb 15;49(4):397–398. doi: 10.1002/ajmg.1320490409. [DOI] [PubMed] [Google Scholar]
- Vehring K. H., Kurlemann G., Traupe H., Bonsmann G., Gerding H., Möllmann S., Hamm H. Incontinentia pigmenti bei einem männlichen Säugling. Hautarzt. 1993 Nov;44(11):726–730. [PubMed] [Google Scholar]