Article
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.
Journal of medical genetics - 1 Sept 2008
Shaikh M G, Boyes L, Kingston H, Collins R, Besley G T N, Padmakumar B, Ismayl O, Hughes I, Hall C M, Hellerud C, Achermann J C, Clayton P E
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.