Germline and gonosomal mosaicism in the ATR-X syndrome.
We have identified two females who are mosaic for an ATRX mutation. One case, in whom the mutation was undetectable in peripheral blood and buccal cells, has two affected sons and is therefore presumed to be a germline mosaic. In another case, the ATRX mutation is weakly detectable in the peripheral...
| Main Authors: | , |
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| Formato: | Journal article |
| Idioma: | English |
| Publicado: |
1999
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