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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. ...
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Alders M, et al. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Hum Genet. 2014. PMID: 24913602
Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem …
Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or …