Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in theNR5A1/SF-1Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred-Reference-Cited by-同舟云学术

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in theNR5A1/SF-1Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

Published:2012 Issue:2 Volume:78 Page:119-126
ISSN:1663-2826
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Ciaccio Marta,Costanzo Mariana,Guercio Gabriela,De Dona Valeria,Marino Roxana,Ramirez Pablo C.,Galeano Jessica,Warman Diana Monica,Berensztein Esperanza,Saraco Nora,Baquedano Maria Sonia,Chaler Eduardo,Maceiras Mercedes,Lazzatti Juan Manuel,Rivarola Marco A.,Belgorosky Alicia

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Cited by 33 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. Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features;Current Issues in Molecular Biology;2024-05-09

2. Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development;American Journal of Medical Genetics Part A;2023-12-22

3. Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5);Frontiers in Endocrinology;2023-06-20

4. A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD;Journal of Pediatric Genetics;2023-03-20

5. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants;Journal of Ovarian Research;2023-02-15