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Grange syndrome
- ... YY1AP1 gene have been identified in people with Grange syndrome. This rare condition causes narrowing (stenosis) and blockage ( ... and tissues, including the kidneys, brain, and heart. Grange syndrome can also be associated with short fingers and ...
- ... article on PubMed Central Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. Am ...
- ... Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review ...
- ... DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med ...
- ... Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, ... syndrome with biallelic UBE3B mutations. Hum Genet. 2014 Jul; ...
- ... Citation on PubMed van Bon BW, Gilissen C, Grange DK, ... de Vries BB, Hoischen A. Cantu syndrome is caused by mutations in ABCC9. Am J ...
- ... Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, ... cause a novel recognisable syndrome. J Med Genet. 2010 Mar;47(3):155- ...
- ... K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, ... Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum ...
- ... mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med ... A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick ...
- ... Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam ...