Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?
- 1 February 1977
- journal article
- research article
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 96 (2) , 133-138
- https://doi.org/10.1111/j.1365-2133.1977.tb12534.x
Abstract
Striation of the metaphyseal regions of the long bones, a characteristic feature of the focal dermal hypoplasia syndrome in patients, may be explained by functional X chromosome mosaicism. The following arguments favor this hypothesis: the striation of bones coincides with the zones of osteogenesis; the skin lesions are distributed in a linear pattern; and the syndrome is probably inherited as an X-linked dominant trait. The linear pattern of both skin and bone lesions could be due to random X inactivation.This publication has 15 references indexed in Scilit:
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