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Lowe syndrome
- ... disease 2 to be a mild variant of Lowe syndrome, which is discussed below.The OCRL gene mutations ... OCRL gene have been identified in individuals with Lowe syndrome, a condition that affects the eyes, brain, and ...
- ... PubMed Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes ...
- ... Condition MedlinePlus Genetics provides information about Lennox-Gastaut syndrome More ... M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis ...