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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Dettagli Bibliografici
Pubblicato in:Hum Genome Var
Autori principali: Higa, Moritake, Zaha, Akiko, Takushi, Akiko, Morishima, Nami, Majikina, Toyofumi, Touma, Takeshi, Shimabukuro, Michio, Masuzaki, Hiroaki, Honda, Misa, Hasegawa, Tomonobu
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
Soggetti:
Data Report
Accesso online: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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