Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci-Reference-Cited by-同舟云学术

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci

Published:2013-10-07 Issue:11 Volume:161 Page:2894-2901
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Garavelli Livia¹,Piemontese Maria Rosaria²,Cavazza Alberto³,Rosato Simonetta¹,Wischmeijer Anita¹²³⁴,Gelmini Chiara¹,Albertini Enrico⁵,Albertini Giuseppe⁶,Forzano Francesca⁷,Franchi Fabrizia⁸,Carella Massimo²,Zelante Leopoldo²,Superti-Furga Andrea⁹

Affiliation:

1. Clinical Genetics Unit, Obstetric and Paediatric Department; Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova; Reggio Emilia Italy

2. Department of Evolutive Age, Medical Genetics Unit; Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo; Foggia Italy

3. Department of Pathology; Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. Maria Nuova; Reggio Emilia Italy

4. Department of Medical Genetics, Policlinico Sant'Orsola-Malpighi; University of Bologna; Bologna Italy

5. Department of Orthodontics; University of Ferrara; Ferrara Italy

6. Department of Dermatology; Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. Maria Nuova; Reggio Emilia Italy

7. Division of Medical Genetics; Galliera Hospital; Genova Italy

8. Laboratory of Genetics; Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S. Maria Nuova; Reggio Emilia Italy

9. Department of Pediatrics, Centre Hospitalier Universitaire Vaudois; University of Lausanne; Lausanne Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Nevoid basal cell carcinoma syndrome: Relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature;Amlashi;Cancer,2003

2. Disruption of impronte genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma;Anderson;Neoplasia,1999

3. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome;Boonen;Am J Med Genet A,2005

4. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS);Bree;Am J Med Genet A,2011

5. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome;Cajaiba;Nat Clin Pract Oncol,2006

Cited by 18 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. Hallmark discoveries in the biology of Wilms tumour;Nature Reviews Urology;2023-10-17

2. Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report;Journal of Pediatric Hematology/Oncology;2022-04-04

3. Improvement of Basal Cell Carcinomas in Patients with Nevoid Basal Cell Carcinoma Syndrome Following by 5-Aminolevulinic Acid Photodynamic Therapy: A Case Report;Clinical, Cosmetic and Investigational Dermatology;2021-12

4. Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype;American Journal of Medical Genetics Part A;2021-05-07

5. Molecular and Immunohistochemical Analysis of Mucinous Cystic Neoplasm of the Liver;American Journal of Clinical Pathology;2020-09-03