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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Higa, Moritake, Zaha, Akiko, Takushi, Akiko, Morishima, Nami, Majikina, Toyofumi, Touma, Takeshi, Shimabukuro, Michio, Masuzaki, Hiroaki, Honda, Misa, Hasegawa, Tomonobu
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7859387/
https://ncbi.nlm.nih.gov/pubmed/33536409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00138-w
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