Simpson-Golabi-Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of theGPC3Gene

Author:

Mateos María Elena1,Beyer Katrin2,López-Laso Eduardo3,Siles Juan López4,Pérez-Navero Juan Luis5,Peña María José1,Guzmán Juana6,Matas Juliana4

Affiliation:

1. Pediatric Oncology Unit, Department of Pediatrics; University Hospital Reina Sofía; Córdoba; Spain

2. Department of Pathology; University Hospital Germans Trías i Pujol, Badalona; Barcelona; Spain

3. Pediatric Neurology Unit, Department of Pediatrics; University Hospital Reina Sofía; Córdoba; Spain

4. Molecular Biology Centre GENETAQ; Málaga; Spain

5. Pediatric Intensive Care Unit, Department of Pediatrics; University Hospital Reina Sofía; Córdoba; Spain

6. Neonatology, Department of Pediatrics; University Hospital Reina Sofía; Córdoba; Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 22 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. Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review;American Journal of Medical Genetics Part A;2024-08-19

2. Simpson–Golabi–Behmel syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-05-20

3. Hepatoblastoma in molecularly defined, congenital diseases;American Journal of Medical Genetics Part A;2022-04-28

4. The Genetic Changes of Hepatoblastoma;Frontiers in Oncology;2021-07-21

5. Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1;European Journal of Medical Genetics;2019-04

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