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Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dyst...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Publishing Group
2008
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2602739/ https://ncbi.nlm.nih.gov/pubmed/18762570 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.055129 |
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