Compound heterozygosity for <scp>PTPN11</scp> variants in a subject with Noonan syndrome provides insights into the mechanism of <scp>SHP2</scp>‐related disorders

Name: Work Video:
Duration: 3 min 30 s
Rebeca Lorca; Luca Pannone; Elías Cuesta‐Llavona; Gianfranco Bocchinfuso; Julián Rodríguez-Reguero; Giovanna Carpentieri; Inés Hernando; Elisabetta Flex; Marco Tartaglia; Eliécer Coto; Juan Gómez; Simone Martinelli
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