46,XX ovotesticular DSD associated with aSOX3gene duplication in aSRY-negative boy-Reference-Cited by-同舟云学术

46,XX ovotesticular DSD associated with aSOX3gene duplication in aSRY-negative boy

Published:2016-07-12 Issue:4 Volume:85 Page:673-675
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Grinspon Romina P.¹,Nevado Julián²³,Mori Alvarez María de los Ángeles²³,del Rey Graciela¹,Castera Roberto⁴,Venara Marcela¹,Chiesa Ana¹,Podestá Miguel⁴,Lapunzina Pablo²³,Rey Rodolfo A.¹⁵

Affiliation:

1. Centro de Investigaciones Endocrinológicas ‘Dr. César Bergadá’ (CEDIE); CONICET-FEI-División de Endocrinología; Hospital de Niños R. Gutiérrez; Buenos Aires Argentina

2. Instituto de Genética Médica y Molecular (INGEMM); Investigación Sanitaria del Hospital Universitario La Paz (IdiPAZ); Universidad Autónoma de Madrid; Madrid Spain

3. CIBERER (Centro de Investigación Básica en Red en Enfermedades Raras); Madrid Spain

4. Unidad de Urología; Hospital de Niños R. Gutiérrez; Buenos Aires Argentina

5. Departamento de Histología, Biología Celular, Embriología y Genética; Facultad de Medicina; Universidad de Buenos Aires; Buenos Aires Argentina

Funder

Fondo Nacional de Promoción Científica

Consejo Nacional de Investigaciones Científicas y Técnicas

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13126/fullpdf

Reference6 articles.

1. The genetics of ovotesticular disorders of sex development;Vilain;Advances in Experimental Medicine and Biology,2011

2. Disorders of sex development with testicular differentiation in SRY-negative 46,XX individuals: clinical and genetic aspects;Grinspon;Sexual Development,2016

3. Cell fate commitment during mammalian sex determination;Lin;Current Opinion in Genetics and Development,2015

4. Identification of SOX3 as an XX male sex reversal gene in mice and humans;Sutton;Journal of Clinical Investigation,2011

5. SOX3 overdosage permits normal sex development in females with random X inactivation;Igarashi;Sexual Development,2015

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development;Journal of Personalized Medicine;2023-07-19

2. SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicism;American Journal of Medical Genetics Part A;2022-11-23

3. The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype;Journal of Pediatric Endocrinology and Metabolism;2022-10-04

4. Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review;BMC Medical Genomics;2022-09-05

5. Mammalian X-chromosome inactivation: proposed role in suppression of the male programme in genetic females;Journal of Genetics;2022-04-05