Three New SF-1 <i>(NR5A1) </i>Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects-Reference-Cited by-同舟云学术

Three New SF-1 (NR5A1) Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

Published:2011 Issue:1 Volume:75 Page:70-77
ISSN:1663-2826
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

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

Publisher

S. Karger AG

Subject

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

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1. Case report: Rare heterozygous variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus;Frontiers in Medicine;2024-08-01

2. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development;eBioMedicine;2024-01

3. 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

4. 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

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