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Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants
HORMONES
◽
10.1007/s42000-021-00322-1
◽
2021
◽
Author(s):
I. Fylaktou
◽
P. Smyrnaki
◽
A. Sertedaki
◽
M. Dracopoulou
◽
Ch. Kanaka-Gantenbein
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Gene Variants
◽
Compound Heterozygosity
◽
Adrenal Hyperplasia
Download Full-text
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Cited By
References
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
Annals of Pediatric Endocrinology & Metabolism
◽
10.6065/apem.2018.23.3.158
◽
2018
◽
Vol 23
(3)
◽
pp. 158-161
◽
Cited By ~ 1
Author(s):
Hamza Nasir
◽
Syed Ibaad Ali
◽
Naeem Haque
◽
Stefan K. Grebe
◽
Salman Kirmani
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Gene Deletion
◽
Compound Heterozygosity
◽
Adrenal Hyperplasia
Download Full-text
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia
Clinical Genetics
◽
10.1111/cge.12016
◽
2012
◽
Vol 84
(5)
◽
pp. 482-488
◽
Cited By ~ 7
Author(s):
LC Kaupert
◽
SHV Lemos-Marini
◽
MP De Mello
◽
RP Moreira
◽
VN Brito
◽
...
Keyword(s):
Congenital Adrenal Hyperplasia
◽
External Genitalia
◽
Gene Variants
◽
Related Gene
◽
Adrenal Hyperplasia
◽
Androgen Metabolism
Download Full-text
Gene variants of Congenital Adrenal Hyperplasia in Anatolian population
Journal of Biotechnology
◽
10.1016/j.jbiotec.2018.06.063
◽
2018
◽
Vol 280
◽
pp. S21
Author(s):
Ruslan Bayramov
◽
Ayca Dundar
◽
Muhammed Ensar Dogan
◽
Mustafa Akkus
◽
Seher Polat
◽
...
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Gene Variants
◽
Adrenal Hyperplasia
Download Full-text
Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology
◽
10.1016/j.jsbmb.2021.105882
◽
2021
◽
pp. 105882
Author(s):
Chenmin Wei
◽
Zichen Zhang
◽
Miaomiao Sang
◽
Hao Dai
◽
Tao Yang
◽
...
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Compound Heterozygosity
◽
Adrenal Hyperplasia
◽
Hydroxylase Deficiency
Download Full-text
Faculty Opinions recommendation of The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.717960354.793463336
◽
2012
◽
Author(s):
Phyllis Speiser
Keyword(s):
Congenital Adrenal Hyperplasia
◽
External Genitalia
◽
Gene Variants
◽
Related Gene
◽
Adrenal Hyperplasia
◽
Androgen Metabolism
Download Full-text
926: Dorsal Nerve Preservation in Modified Reduction Clitoroplasty in Congenital Adrenal Hyperplasia (CAH)
The Journal of Urology
◽
10.1016/s0022-5347(18)31154-6
◽
2007
◽
Vol 177
(4S)
◽
pp. 307-307
Author(s):
Ariella Hochsztein
◽
Rebecca Baergen
◽
Emily Loyd
◽
Jie Chen
◽
Diane Felsen
◽
...
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Adrenal Hyperplasia
◽
Nerve Preservation
◽
Dorsal Nerve
Download Full-text
Abstract #810984: Discordant Serum 17-Hydroxyprogesterone and Androstenedione in the Management of Congenital Adrenal Hyperplasia: Are 11-Oxygenated-Androgens Useful?
Endocrine Practice
◽
10.1016/s1530-891x(20)39842-6
◽
2020
◽
Vol 26
◽
pp. 39-40
Author(s):
Smita Jha
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Adrenal Hyperplasia
◽
17 Hydroxyprogesterone
Download Full-text
Abstract #106: Congenital Adrenal Hyperplasia Presenting with Giant Adrenal Myelolipomas
Endocrine Practice
◽
10.1016/s1530-891x(20)44187-4
◽
2017
◽
Vol 23
◽
pp. 4-5
Author(s):
Tarandeep Kaur
◽
Peter Dipasco
◽
Leland Graves
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Adrenal Hyperplasia
Download Full-text
Abstract #108 Large Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia
Endocrine Practice
◽
10.1016/s1530-891x(20)47011-9
◽
2018
◽
Vol 24
◽
pp. 5
Author(s):
Boji Varghese
◽
Cassandra Falk
◽
Nisha Nigil Haroon
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Adrenal Hyperplasia
◽
Testicular Adrenal Rest Tumors
◽
Adrenal Rest
◽
Testicular Adrenal Rest
Download Full-text
Abstract #805: Male Infertility in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Endocrine Practice
◽
10.1016/s1530-891x(20)43657-2
◽
2005
◽
Vol 11
◽
pp. 4-5
Author(s):
Shanjian Zhu
◽
Harris C. Taylor
◽
Baha Arafah
◽
Thomas A. Murphy
Keyword(s):
Male Infertility
◽
Congenital Adrenal Hyperplasia
◽
Adrenal Hyperplasia
◽
Hydroxylase Deficiency
◽
21 Hydroxylase Deficiency
Download Full-text
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