The concept of autosomal lethal genes surviving only in a mosaic state was proposed by Happle to explain the genetic basis of several syndromes characterized by (almost always) sporadic occurrence, distribution of lesions in a scattered or asymmetrical pattern, variable extent of involvement, lack o
Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism
✍ Scribed by K�ster, Wolfgang; K�nig, Arne
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 9 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990806)85:4<346::aid-ajmg7>3.0.co;2-1
No coin nor oath required. For personal study only.
✦ Synopsis
Hypomelanosis of Ito is a neurocutaneous phenotype comprising pigmentary anomalies, neurological defects, structural malformations, and chromosomal abnormalities. It has been described as a distinct multisystem birth defect or, more specifically, as a neurocutaneous syndrome. The main purpose of this study is to provide evidence that this disorder does not exist as a syndrome. Rather, it is a causally nonspecific pigmentary disorder caused by genetic mosaicism.
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