NOVEL GPC3 GENE MUTATION IN SIMPSON-GOLABIBEHMEL SYNDROME WITH ENDOCRINE ANOMALIES: A CASE REPORT
Bu W, Zhu M, Li S, Liu H, Liu X,
*Corresponding Author: Xiaomin Liu, M.D., Department of Neurology, the First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, 16766 Jingshi Road, Jinan 250014, Shandong, People’s Republic of China. Tel: +86-531-89269012. Fax: +86-531- 82967114. E-mail: bosucn@163.com
page: 95

REFERENCES

1. Pilia G, Hughes-Benzie RM, MacKenzie A, Bay-bayan P, Chen EY, Huber R, et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet. 1996; 12(3): 241-247. 2. Cottereau E, Mortemousque I, Moizard M-P, Bürglen L, Lacombe D, Gilbert-Dussardier B, et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet. 2013; 163C(2): 92-105. 3. Vuillaume M-L, Moizard M-P, Rossignol S, Cottereau E, Vonwill S, Alessandri J-L, et al. Mutation update for the GPC3 gene involved in Simpson-Golabi- Behmel syndrome and review of the literature. Hum Mutat. 2018; 39(6): 790-805. 4. Pénisson-Besnier I, Lebouvier T, Moizard M-P, Ferré M, Barth M, Marc G, et al. Carotid artery dissection in an adult with the Simpson-Golabi- Behmel syndrome. Am J Med Genet A. 2008; 146A(4): 464-467. 5. Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E, et al. A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Am J Med Genet A. 2013; 161A(12): 3121-3125. 6. Zhang J, Mu K, Xu H, Guo Y, Liu Z, Wang L, et al. Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. Medicine (Baltimore). 2019; 98(43). e17616. 7. Andrysiak-Mamos E, Sagan KP, Lietz-Kijak D, Kijak E, Kaźmierczak B, Pietrzyk A, et al. Simpson-Golabi- Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study. Am J Med Genet A. 2019; 179(2): 322-328. 8. Ortiz MV, Roberts SS, Glade Bender J, Shukla N, Wexler LH. Immunotherapeutic targeting of GPC3 in pediatric solid embryonal tumors. Front Oncol. 2019; 9: 108. eCollection 2019.



Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006