Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Noonan syndrome (NS) is characterized by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR1 may be associated with both dominant and recessi...

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Main Authors: Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, The DDD Study, Blair, E, Stewart, H
Format: Journal article
Language:English
Published: Wiley 2019