A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene

11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disorder, accounts for 5–8% of congenital adrenal hyperplasia. In Greece, no cases of 11β-OHD have been described so far. The patient presented at the age of 13 months with mild virilization of external genitalia and pubic hair d...

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Detalles Bibliográficos
Autores principales: Marakaki, Chrisanthi, Papadopoulou, Anna, Karapanou, Olga, Papadimitriou, Dimitrios T, Kleanthous, Kleanthis, Papadimitriou, Anastasios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626658/
https://www.ncbi.nlm.nih.gov/pubmed/26525354
http://dx.doi.org/10.1530/EDM-15-0074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626658/
https://www.ncbi.nlm.nih.gov/pubmed/26525354
http://dx.doi.org/10.1530/EDM-15-0074

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