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Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
Scalais E, Connerotte AC, Despontin K, Biver A, Ceuterick-de Groote C, Alders M, Kolivras A, Hachem JP, De Meirleir L. Scalais E, et al. Among authors: alders m. Am J Med Genet A. 2016 Jul;170(7):1799-805. doi: 10.1002/ajmg.a.37673. Epub 2016 Apr 29. Am J Med Genet A. 2016. PMID: 27127007
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
Hopman SM, Van Rijn RR, Eng C, Bras J, Alders M, van der Horst CM, Hennekam RC, Merks JH. Hopman SM, et al. Among authors: alders m. Am J Med Genet A. 2012 Jul;158A(7):1719-23. doi: 10.1002/ajmg.a.35406. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628360
Intellectual disability and hemizygous GPD2 mutation.
Barge-Schaapveld DQ, Ofman R, Knegt AC, Alders M, Höhne W, Kemp S, Hennekam RC. Barge-Schaapveld DQ, et al. Among authors: alders m. Am J Med Genet A. 2013 May;161A(5):1044-50. doi: 10.1002/ajmg.a.35873. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554088
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: alders m. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832
Variants in KAT6A and pituitary anomalies.
Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM. Zwaveling-Soonawala N, et al. Among authors: alders m. Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636259 No abstract available.
204 results