A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 ( WT1 ) pathogenic variant-Reference-Cited by-同舟云学术

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 ( WT1 ) pathogenic variant

Published:2018-10-28 Issue:1 Volume:95 Page:172-176
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Gomes Nathalia L.¹^ORCID,de Paula Leila C.P.²,Silva Juliana M.¹,Silva Thatiana E.¹,Lerário Antônio M.³⁴,Nishi Mirian Y.¹⁴,Batista Rafael L.¹^ORCID,Faria Júnior José A. D.¹,Moraes Daniela¹,Costa Elaine M.F.¹,Hemesath Tatiana P.²,Guaragna‐Filho Guilherme²,Leite Júlio C.L.²,Carvalho Clarissa G.²,Domenice Sorahia¹,Costa Eduardo C.²,Mendonca Berenice B.¹⁴^ORCID

Affiliation:

1. Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo Brazil

2. Hospital de Clínicas de Porto Alegre, Programa de Atendimento às Desordens do Desenvolvimento Sexual (PADS), Unidade de Desordens do Desenvolvimento Sexual Brazil, UFRGS Rio Grande do Sul Brazil

3. Department of Internal Medicine, Division of Metabolism, Endocrinology and DiabetesUniversity of Michigan Ann Arbor Michigan

4. Laboratório de Sequenciamento em Larga Escala (SELA)Faculdade de Medicina da Universidade de São Paulo São Paulo Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13459

Reference23 articles.

1. Molecular mechanisms associated with 46,XX disorders of sex development

2. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

3. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

4. WT-1 is required for early kidney development

5. Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins

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

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