Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Aplasia Cutis Congenita[original query] |
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Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clinical genetics 2016 Mar . Boppudi Sangamitra, Bögershausen Nina, Hove Hanne Buciek, Ferda Percin E, Aslan Deniz, Dvorsky Radovan, Kayhan Gülsüm, Li Yun, Cursiefen Claus, Tantcheva-Poor Iliana, Toft Peter B, Bartsch Oliver, Lißewski Christina, Jakubiczka Sibylle, Wollnik Bernd, Ahmadian Mohammad Reza, Heindl Ludwig M, Zenker Mart |
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Human mutation 2018 Jun . Meester Josephina A N, Sukalo Maja, Schröder Kim C, Schanze Denny, Baynam Gareth, Borck Guntram, Bramswig Nuria C, Duman Duygu, Gilbert-Dussardier Brigitte, Holder-Espinasse Muriel, Itin Peter, Johnson Diana S, Joss Shelagh, Koillinen Hannele, McKenzie Fiona, Morton Jenny, Nelle Heike, Reardon Willie, Roll Claudia, Salih Mustafa A, Savarirayan Ravi, Scurr Ingrid, Splitt Miranda, Thompson Elizabeth, Titheradge Hannah, Travers Colm P, Van Maldergem Lionel, Whiteford Margo, Wieczorek Dagmar, Vandeweyer Geert, Trembath Richard, Van Laer Lut, Loeys Bart L, Zenker Martin, Southgate Laura, Wuyts W |
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. Neuropediatrics 2018 4 49 (3): 217-221. Pisciotta Livia, Capra Valeria, Accogli Andrea, Giacomini Thea, Prato Giulia, Tavares Purificação, Pinto-Basto Jorge, Morana Giovanni, Mancardi Maria Margheri |
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