Uneingeschränkter Zugang

Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report

, , ,  und    | 05. Juni 2022

Zitieren

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 over-growth syndrome. Nat Genet. 1996; 12(3): 241–247. PiliaG Hughes-BenzieRM MacKenzieA Bay-bayanP ChenEY HuberR Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel over-growth syndrome Nat Genet 1996 12 3 241 247 10.1038/ng0396-2418589713 Search in Google Scholar

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. CottereauE MortemousqueI MoizardM-P BürglenL LacombeD Gilbert-DussardierB 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 10.1002/ajmg.c.3136023606591 Search in Google Scholar

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. VuillaumeM-L MoizardM-P RossignolS CottereauE VonwillS AlessandriJ-L Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature Hum Mutat 2018 39 6 790 805 10.1002/humu.2342829637653 Search in Google Scholar

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. Pénisson-BesnierI LebouvierT MoizardM-P FerréM BarthM MarcG Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome Am J Med Genet A 2008 146A 4 464 467 10.1002/ajmg.a.3215418203194 Search in Google Scholar

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. VillarrealDD VillarrealH PaezAM PeppasD LynchJ RoederE 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 10.1002/ajmg.a.3608624115482 Search in Google Scholar

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. ZhangJ MuK XuH GuoY LiuZ WangL Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report Medicine (Baltimore) 2019 98 43 e17616 10.1097/MD.0000000000017616682463931651874 Search in Google Scholar

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. Andrysiak-MamosE SaganKP Lietz-KijakD KijakE KaźmierczakB PietrzykA 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 10.1002/ajmg.a.6101330592149 Search in Google Scholar

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. OrtizMV RobertsSS Glade BenderJ ShuklaN WexlerLH Immunotherapeutic targeting of GPC3 in pediatric solid embryonal tumors Front Oncol 2019 9 108 eCollection 2019 10.3389/fonc.2019.00108640160330873384 Search in Google Scholar

eISSN:
1311-0160
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
2 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Vorklinische Medizin, Grundlagenmedizin, andere