International journal of laboratory hematology
CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome.
Victoria Salvadores-Álvarez, Águeda Molinos-Quintana, Rosario M Morales-Camacho, Eusebio Martín-Chacón, Marta Reinoso Segura, M Teresa Vargas, Estrella Carrillo-Cruz, Elena Soria-Saldise, Concepción Prats-Martín
Published: 202510.1111/ijlh.70055
Abstract
CBL syndrome is caused by a heterozygous germline mutation in the CBL gene. It is a rare RASopathy that shares many clinical features with mild forms of Noonan syndrome. These patients have a higher risk of developing juvenile myelomonocytic leukaemi…
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