Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

Leardini D, Flex E, Stieglitz E, Cerasi S, Bertuccio SN, Baccelli F, Kállay K, Kjollerstrom P, Batalha S, Carpentieri G, Pedace L, Ciolfi A, Hammad M, Miranda M, Rojas M, Rao A, Innes AJ, Rudelius M, Santini V, Raddi M, Teh KH, De Vito R, Yoshimi A, Tartaglia M, Locatelli F, Niemeyer CM, Masetti R