Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders
Publication date:
2021
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Citación:
Clinical Genetics, 99(3), p. 457-461 (2021); doi:10.1111/cge.13904
Descripción física:
p. 457-461
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DOI:
Patrocinado por:
This work was supported by Italian Ministry of Health (RicercaCorrente2020), AIRC (IG21614), EJP-RD (NSEuroNet) to MT, and by Spanish Ministerio de Economía y Competitividad-Instituto de Salud Carlos III and Fondos Europeos de Desarrollo Regional (FEDER funds; PI17/00648, RETIC RD16/0009/0005).
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