Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency-Reference-Cited by-同舟云学术

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

Published:2021-02-03 Issue:1 Volume:8 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Higa Moritake,Zaha Akiko,Takushi Akiko,Morishima Nami,Majikina Toyofumi,Touma Takeshi,Shimabukuro Michio,Masuzaki Hiroaki,Honda Misa,Hasegawa Tomonobu

Abstract

AbstractWe 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*. The association with combined pituitary hormone deficiency might be just a coincidence.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-021-00138-w.pdf

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