Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus withGPC3andGPC4gene microduplications-Reference-Cited by-同舟云学术

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Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus withGPC3andGPC4gene microduplications

Published:2016-02-05 Issue:1 Volume:90 Page:99-101
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mujezinović F¹,Krgović D²,Blatnik A²,Zagradišnik B²,Vipotnik TV³,Golec TČ⁴,Tul N⁵,Vokač N Kokalj²⁶

Affiliation:

1. Department of Perinatology, Division of Gynaecology and Perinatology; University Medical Centre Maribor; Maribor Slovenia

2. Laboratory of Medical Genetics; University Medical Centre Maribor; Maribor Slovenia

3. Department of Radiology; University Medical Centre Ljubljana; Ljubljana Slovenia

4. Institute of Pathology, Faculty of Medicine; University of Ljubljana; Ljubljana Slovenia

5. Department of Perinatology, Division of Obstetrics and Gynaecology; University Medical Centre Ljubljana; Ljubljana Slovenia

6. Faculty of Medicine; University of Maribor; Maribor Slovenia

Funder

Research Agency of Slovenia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference7 articles.

1. Simpson-Golabi-Behmel syndrome types I and II;Tenorio;Orphanet J Rare Dis,2014

2. Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome;Waterson;Am J Med Genet A,2010

3. HS3ST2 expression is critical for the abnormal phosphorylation of tau in Alzheimer's disease-related tau pathology;Sepulveda-Diaz;Brain,2015

4. Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding;Capurro;Dev Cell,2008

5. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome;Veugelers;Genomics,1998

Cited by 14 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. Prenatal diagnosis of Simpson–Golabi–Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold;Taiwanese Journal of Obstetrics and Gynecology;2023-01

3. A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother;Medicine;2022-04-22

4. FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency;Science Advances;2021-12-03

5. Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review;Molecular Genetics & Genomic Medicine;2021-07-22

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