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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Những tác giả chính:	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
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	Wiley 2019

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

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