<scp> <i>SOX3</i> </scp> duplication in a boy with 46, <scp>XX</scp> ovotesticular disorder of sex development and his 46, <scp>XX</scp> sister with atypical genitalia: Probable germline mosaicism-Reference-Cited by-同舟云学术

SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicism

Published:2022-11-23 Issue:2 Volume:191 Page:592-598
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

de Oliveira Flávia Marcorin¹^ORCID,Barros Beatriz Amstalden²,dos Santos Ana Paula¹,Campos Nilma Lúcia Viguetti¹,Mazzola Taís Nitsch³,Filho Paulo Latuf³,Andrade Liliana Aparecida Lucci De Angelo⁴,Guaragna Mara Sanches⁵^ORCID,de Mello Maricilda Palandi⁵,Guerra‐Junior Gil²,Vieira Társis Antonio Paiva¹^ORCID,Maciel‐Guerra Andréa Trevas¹^ORCID

Affiliation:

1. Department of Translational Medicine School of Medical Sciences (FCM), University of Campinas (Unicamp) Campinas São Paulo Brazil

2. Department of Pediatrics FCM, University of Campinas (Unicamp) Campinas São Paulo Brazil

3. Pediatric Research Center – Ciped FCM, University of Campinas (Unicamp) Campinas São Paulo Brazil

4. Department of Pathology FCM, University of Campinas (Unicamp) Campinas São Paulo Brazil

5. Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (Unicamp) Campinas São Paulo Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63051

Reference20 articles.

1. Ahmed F. McElreavey K. McGowan R. &Tobias E.(2022 January 14).46 XX ovotesticular disorder of sex development.Orphanet Encyclopaedia. Retrieved from https://www.orpha.net/consor/cgi‐bin/OC_Exp.php?lng=EN&Expert=2138.

2. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review

3. Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

4. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

5. Penile anthropometry in Brazilian children and adolescents

Cited by 2 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. Diagnosis and management of non-CAH 46,XX disorders/differences in sex development;Frontiers in Endocrinology;2024-05-15

2. Testicular differentiation in 46,XX DSD: an overview of genetic causes;Frontiers in Endocrinology;2024-04-24