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Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC. Ivanovski I, et al. Am J Med Genet A. 2018 May;176(5):1166-1174. doi: 10.1002/ajmg.a.38652. Am J Med Genet A. 2018. PMID: 29681106
Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). ...
Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam sy …
Middle ear abnormalities in Van Maldergem syndrome.
Verheij E, Thomeer HG, Pameijer FA, Topsakal V. Verheij E, et al. Am J Med Genet A. 2017 Jan;173(1):239-244. doi: 10.1002/ajmg.a.37990. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739185
Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. ...
Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. ...
A further patient with van Maldergem syndrome.
Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N. Neuhann TM, et al. Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13. Eur J Med Genet. 2012. PMID: 22469822
We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. His parents are first cousins. At the age of 4 years the boy presented with severe developmental delay, talipes equinovarus, finger camptod …
We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. …
A newborn diagnosed with van Maldergem syndrome.
Ulubas Isik D, Unal S, Erol S, Arslan Z, Bas AY, Demirel N. Ulubas Isik D, et al. Clin Dysmorphol. 2018 Apr;27(2):63-65. doi: 10.1097/MCD.0000000000000211. Clin Dysmorphol. 2018. PMID: 29505454 No abstract available.