Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. Th...

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Detalles Bibliográficos
Autores principales: Higa, Moritake, Zaha, Akiko, Takushi, Akiko, Morishima, Nami, Majikina, Toyofumi, Touma, Takeshi, Shimabukuro, Michio, Masuzaki, Hiroaki, Honda, Misa, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859387/
https://www.ncbi.nlm.nih.gov/pubmed/33536409
http://dx.doi.org/10.1038/s41439-021-00138-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859387/
https://www.ncbi.nlm.nih.gov/pubmed/33536409
http://dx.doi.org/10.1038/s41439-021-00138-w

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