Providing more evidence on LZTR1 variants in Noonan syndrome patients

Chinton, J; Huckstadt, V; Mucciolo, M; Lepri, F; Novelli, A; Gravina, LP; Obregon, MG

Chinton, J (reprint author), Hosp Pediat Garrahan, Serv Genet, Lab Biol Mol, Combate Pozos 1881, AR-1245 Buenos Aires, DF, Argentina.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020; 182 (2): 409

Abstract

Noonan syndrome (NS, OMIM 163950) is a common autosomal dominant RASopathy caused mainly by gain-of-function germline pathogenic variants in genes inv......

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