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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2008
Materias:
Online Mutation Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2602739/
https://www.ncbi.nlm.nih.gov/pubmed/18762570
http://dx.doi.org/10.1136/jmg.2007.055129

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