LNKing genotype to phenotype: the expanding clinical spectrum of SH2B3 disorders

Enrico Attardi^{1

2}, Marcin W Wlodarski³

Affiliations

¹ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
² Department of Hematology, St. Jude Children's Research Hospital, Memphis, USA.
³ Department of Hematology, St. Jude Children's Research Hospital, Memphis, USA. marcin.wlodarski@stjude.org.

Comment

Enrico Attardi et al. Eur J Hum Genet. 2025.

. 2025 Sep 23.

doi: 10.1038/s41431-025-01942-6. Online ahead of print.

Enrico Attardi^{1

2}, Marcin W Wlodarski³

¹ Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
² Department of Hematology, St. Jude Children's Research Hospital, Memphis, USA.
³ Department of Hematology, St. Jude Children's Research Hospital, Memphis, USA. marcin.wlodarski@stjude.org.

No abstract available

Conflict of interest statement

Competing interests: The authors declare no competing interests.

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. 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.

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