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.
Leardini D, et al. Among authors: teh kh.
Eur J Hum Genet. 2025 Sep;33(9):1127-1135. doi: 10.1038/s41431-025-01877-y. Epub 2025 Jun 6.
Eur J Hum Genet. 2025.
PMID: 40481232
Free PMC article.