Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata
- 1 January 2003
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 112 (1) , 78-83
- https://doi.org/10.1007/s00439-002-0844-x
Abstract
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