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Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11 by Célia P. Koiffmann; Deise H. de Souza; Aron Diament; Heloisa B. Ventura; Rosana S. Alves; Sonia Kihara; Anita Wajntal is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11 about?
We report on a girl with apparent hypomelanosis of It0 (I'lD); cytogenetic studies disclosed the karyotype 46,X,t(X;lO)(pll;qll)mat. We present further evidence that at least one of the genetic forms of IT0 is located at X p l l ; reviewing the clinical characteristics of patients with incontinentia pigmenti type l (IP1) and IT0 with X-autosome translocations, we suggest that IP1 and IT0 represent allelic forms or a contiguous gene syndrome. Thus, different genetic alterations in this region (Xpll) give rise to IT0 or IP1 or borderline phenotypes. We also suggest that all patients with ITO, due to X p l l mutation, have functional or genetic mosaicisms. 0 1993 Why-Lies. Inc.
Who reads Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Célia P. Koiffmann; Deise H. de Souza; Aron Diament; Heloisa B. Ventura; Rosana S. Alves; Sonia Kihara; Anita Wajntal
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1993
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)