Literature DB >> 11241055

Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy.

B Köhler1, V Schumacher, D l'Allemand, B Royer-Pokora, A Grüters.   

Abstract

Mutations of the Wilms tumor suppressor gene (WT1 ) have been described only in patients with syndromes associated with urogenital malformation and Wilms tumor or nephropathy. We present a male patient with an isolated genital malformation caused by a WT1 mutation.

Entities:  

Mesh：

Year:  2001        PMID： 11241055     DOI： 10.1067/mpd.2001.112512

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  5 in total

Review 1.  Genetic and environmental factors in the aetiology of hypospadias.

Authors:  Mathew George; Francisco J Schneuer; Sarra E Jamieson; Andrew J A Holland
Journal:  Pediatr Surg Int       Date:  2015-03-06       Impact factor: 1.827

2.  A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.

Authors:  Dong-Gi Lee; Deok Hyun Han; Kwan Hyun Park; Minki Baek
Journal:  Eur J Pediatr       Date:  2011-03-08       Impact factor: 3.183

3.  Disorders of sex development: Genetic characterization of a patient cohort.

Authors:  Mary García-Acero; Olga Moreno-Niño; Fernando Suárez-Obando; Mónica Molina; María Carolina Manotas; Juan Carlos Prieto; Catalina Forero; Camila Céspedes; Jaime Pérez; Nicolas Fernandez; Adriana Rojas
Journal:  Mol Med Rep       Date:  2019-11-12       Impact factor: 2.952

4.  Spectrum of Clinical Manifestations in Children With WT1 Mutation: Case Series and Literature Review.

Authors:  Patricia Arroyo-Parejo Drayer; Wacharee Seeherunvong; Chryso P Katsoufis; Marissa J DeFreitas; Tossaporn Seeherunvong; Jayanthi Chandar; Carolyn L Abitbol
Journal:  Front Pediatr       Date:  2022-04-15       Impact factor: 3.418

5.  Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

Authors:  Dorien Baetens; Wilhelm Mladenov; Barbara Delle Chiaie; Björn Menten; An Desloovere; Violeta Iotova; Bert Callewaert; Erik Van Laecke; Piet Hoebeke; Elfride De Baere; Martine Cools
Journal:  Orphanet J Rare Dis       Date:  2014-12-14       Impact factor: 4.123
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.