The Phenotypic Spectrum of Contiguous Deletion of CYP21A2 and Tenascin XB: Quadricuspid Aortic Valve and Other Midline Defects

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21-hydroxylase, CYP21A2, and tenascin-X (TNX), TNXB, are located within the HLA complex, in a region of high...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Chen, Wuyan, Kim, Mimi S., Shanbhag, Sujata, Arai, Andrew, VanRyzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2963110/
https://ncbi.nlm.nih.gov/pubmed/19921645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33092
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares