Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

BACKGROUND: Duplications at the Xp21.2 locus have previously been linked to 46, XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of NR0B1 (DAX1), but the exact disease mechanism remains unknown. METHODS: Patients with 46, XY GD were analysed by whole genome sequencing....

Descripción completa

Detalles Bibliográficos
Autores principales: Meinel, Jakob A, Yumiceba, Verónica, Künstner, Axel, Schultz, Kristin, Kruse, Nathalie, Kaiser, Frank J, Holterhus, Paul-Martin, Claviez, Alexander, Hiort, Olaf, Busch, Hauke, Spielmann, Malte, Werner, Ralf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Chromosomal Rearrangements
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176412/
https://www.ncbi.nlm.nih.gov/pubmed/36227713
http://dx.doi.org/10.1136/jmg-2022-108635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176412/
https://www.ncbi.nlm.nih.gov/pubmed/36227713
http://dx.doi.org/10.1136/jmg-2022-108635

Ejemplares similares