A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development

A novel CYP11A1: c.1236 + 5G > A was identified, expanding the mutation spectrum of the congenital adrenal insufficiency with 46,XY sex reversal. In a now 17-year-old girl delivered full-term (G2P2, parents unrelated), adrenal failure was diagnosed in the first year of life based on clinical pict...

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Detalles Bibliográficos
Autores principales: Matusik, Pawel, Gach, Agnieszka, Zajdel-Cwynar, Olimpia, Pinkier, Iwona, Kudela, Grzegorz, Gawlik, Aneta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295740/
https://www.ncbi.nlm.nih.gov/pubmed/34281122
http://dx.doi.org/10.3390/ijerph18137186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295740/
https://www.ncbi.nlm.nih.gov/pubmed/34281122
http://dx.doi.org/10.3390/ijerph18137186

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