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4. Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. Connell FC; Ostergaard P; Carver C; Brice G; Williams N; Mansour S; Mortimer PS; Jeffery S; Hum Genet; 2009 Jan; 124(6):625-31. PubMed ID: 19002718 [TBL] [Abstract][Full Text] [Related]
5. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. McMillin MJ; Beck AE; Chong JX; Shively KM; Buckingham KJ; Gildersleeve HI; Aracena MI; Aylsworth AS; Bitoun P; Carey JC; Clericuzio CL; Crow YJ; Curry CJ; Devriendt K; Everman DB; Fryer A; Gibson K; Giovannucci Uzielli ML; Graham JM; Hall JG; Hecht JT; Heidenreich RA; Hurst JA; Irani S; Krapels IP; Leroy JG; Mowat D; Plant GT; Robertson SP; Schorry EK; Scott RH; Seaver LH; Sherr E; Splitt M; Stewart H; Stumpel C; Temel SG; Weaver DD; Whiteford M; Williams MS; Tabor HK; Smith JD; Shendure J; Nickerson DA; ; Bamshad MJ Am J Hum Genet; 2014 May; 94(5):734-44. PubMed ID: 24726473 [TBL] [Abstract][Full Text] [Related]
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7. Familial Gordon syndrome associated with a PIEZO2 mutation. Alisch F; Weichert A; Kalache K; Paradiso V; Longardt AC; Dame C; Hoffmann K; Horn D Am J Med Genet A; 2017 Jan; 173(1):254-259. PubMed ID: 27714920 [TBL] [Abstract][Full Text] [Related]
8. Three cases of Gordon syndrome with dominant KLHL3 mutations. Park JS; Park E; Hyun HS; Ahn YH; Kang HG; Ha IS; Cheong HI J Pediatr Endocrinol Metab; 2017 Mar; 30(3):361-364. PubMed ID: 28222034 [TBL] [Abstract][Full Text] [Related]
10. Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. Fastré E; Lanteigne LE; Helaers R; Giacalone G; Revencu N; Dionyssiou D; Demiri E; Brouillard P; Vikkula M Clin Genet; 2018 Jul; 94(1):179-181. PubMed ID: 29542815 [No Abstract] [Full Text] [Related]
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12. Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report. Huynh MT; Degre S; Joly-Helas G; Bréon C; Potel S; Chambon P; Bouligand J; Layet V Am J Med Genet A; 2022 Dec; 188(12):3550-3554. PubMed ID: 36129367 [TBL] [Abstract][Full Text] [Related]
13. Gordon syndrome: literature review and a report of two cases. Botha SJ; Bütow KW Cleft Palate Craniofac J; 2015 Jan; 52(1):e18-22. PubMed ID: 24878349 [TBL] [Abstract][Full Text] [Related]
14. Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema. Mukenge S; Jha SK; Catena M; Manara E; Leppänen VM; Lenti E; Negrini D; Bertelli M; Brendolan A; Jeltsch M; Aldrighetti L Mol Genet Genomic Med; 2020 Sep; 8(9):e1389. PubMed ID: 32592340 [TBL] [Abstract][Full Text] [Related]
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18. De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome. Pranckėnienė L; Siavrienė E; Gueneau L; Preikšaitienė E; Mikštienė V; Reymond A; Kučinskas V Mol Genet Genomic Med; 2019 Dec; 7(12):e1006. PubMed ID: 31628733 [TBL] [Abstract][Full Text] [Related]
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20. Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain. Roukens MG; Peterson-Maduro J; Padberg Y; Jeltsch M; Leppänen VM; Bos FL; Alitalo K; Schulte-Merker S; Schulte D Circ Res; 2015 May; 116(10):1660-9. PubMed ID: 25814692 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]