A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses-Reference-Cited by-同舟云学术

A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses

Published:2021-05 Issue:5 Volume:64 Page:104192
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Yang Haihua,Wei Haiyan,Shen Linghua,Kumar C Selvaa,Chen Qiong,Chen Yongxing,Kumar Senthil Arun

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference65 articles.

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4. SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis;Beuschlein;Endocr. Res.,2002

5. Diagnosis of pediatric varicoceles by physical examination and ultrasonography and measurement of the testicular volume: using the prader orchidometer versus ultrasonography;Cayan;Urol. Int.,2002

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2. New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images;Molecular Genetics & Genomic Medicine;2023-04-28

3. Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development;Biomolecules;2023-04-19

4. A review of the genetics and epigenetics of central precocious puberty;Frontiers in Endocrinology;2022-12-02

5. Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants;Frontiers in Endocrinology;2022-03-30