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Article: Research from Royal Manchester Children's Hospital in medical genetics provides new insights.
- Article from:
- Genomics & Genetics Weekly
- Article date:
- October 17, 2008
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According to recent research from Manchester, the United Kingdom, "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 dystrophin and glycerol kinase (GK) genes. We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 39 end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of ...