Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

BACKGROUND: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North...

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Detalles Bibliográficos
Autores principales: Berrani, H., Meskini, T., Zerkaoui, M., Merhni, H., Ettair, S., Sefiani, A., Mouane, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987581/
https://www.ncbi.nlm.nih.gov/pubmed/29866068
http://dx.doi.org/10.1186/s12887-018-1161-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987581/
https://www.ncbi.nlm.nih.gov/pubmed/29866068
http://dx.doi.org/10.1186/s12887-018-1161-4

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