Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Encephalocraniocutaneous Lipomatosis[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 |
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. American journal of medical genetics. Part A 2018 10 176 (11): 2523-2527. McDonell Laura M, Leung Gordon Ka-Chun, Daoud Hussein, Ip Janice, Chim Stella, Luk Ho Ming, Lan Lawrence, , Boycott Kym M, Chung Brian Hon-Y |
Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis. Pediatric dermatology 2023 7 . Kelly K Barry, Marilyn G Liang, Daniel M Balkin, Siddharth Srivastava, Alanna J Church, Whitney E |
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