scholarly journals Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India

2013 ◽  
Vol 5 (2) ◽  
pp. 121-124 ◽  
Author(s):  
Vasudevan Lakshmi ◽  
Joshi Rajesh ◽  
Kumar Das Dhanjit ◽  
Rao Sudha ◽  
Sanghavi Daksha ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Novel Mutations ◽  
First Report ◽  
Star Gene

Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia

2012 ◽  
Vol 130 (1-2) ◽  
pp. 1-6 ◽  
Author(s):  
Antje Eiden-Plach ◽  
Huy-Hoang Nguyen ◽  
Ursula Schneider ◽  
Michaela F. Hartmann ◽  
Rita Bernhardt ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Homozygous Deletion ◽  
Adrenal Hyperplasia ◽  
Star Gene

Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese

1998 ◽  
Vol 103 (3) ◽  
pp. 304-310 ◽  
Author(s):  
H.-H. Lee ◽  
Hsiang-Tai Chao ◽  
Yann-Jinn Lee ◽  
San-Ging Shu ◽  
Mei-Chyn Chao ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Novel Mutations ◽  
Cyp21 Gene

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

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Moritake Higa ◽  
Akiko Zaha ◽  
Akiko Takushi ◽  
Nami Morishima ◽  
Toyofumi Majikina ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Adrenal Hyperplasia ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Pathogenic Variants ◽  
First Case ◽  
Novel Variant ◽  
Star Gene

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.

Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients

Endocrine ◽  
2013 ◽  
Vol 44 (1) ◽  
pp. 212-219 ◽  
Author(s):  
Mohammad Reza Abbaszadegan ◽  
Soolmaz Hassani ◽  
Rahim Vakili ◽  
Mohammad Reza Saberi ◽  
Alireza Baradaran-Heravi ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Novel Mutations ◽  
Classic Congenital Adrenal Hyperplasia
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