Cargando…
Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
OBJECTIVE: The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 pathogenic variants and systematically review the li...
Autores principales: | Arya, Sneha, Kumar, Sandeep, Lila, Anurag R, Sarathi, Vijaya, Memon, Saba Samad, Barnabas, Rohit, Thakkar, Hemangini, Patil, Virendra A, Shah, Nalini S, Bandgar, Tushar R |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679883/ https://www.ncbi.nlm.nih.gov/pubmed/34727091 http://dx.doi.org/10.1530/EC-21-0289 |
Ejemplares similares
-
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature
por: Maheshwari, Madhur, et al.
Publicado: (2022) -
A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
por: Hersmus, Remko, et al.
Publicado: (2012) -
46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
por: DU, XUE, et al.
Publicado: (2014) -
Low-Dose, Low-Specific Activity (131)I-metaiodobenzyl Guanidine Therapy in Metastatic Pheochromocytoma/Sympathetic Paraganglioma: Single-Center Experience from Western India
por: Barnabas, Rohit, et al.
Publicado: (2021) -
Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report.
por: Kim, S. K., et al.
Publicado: (1993)