Article
Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient.
Boletin medico del Hospital Infantil de Mexico - 3 May 2021
Núñez-Martínez Paulina M, Taja-Chayeb Lucía, Ramírez-Otero Miguel A, Fragoso-Ontiveros Verónica, Wegman-Ostrosky Talia, Cruz-Robles David, Vidal Millán Silvia
Abstract excerpt
BACKGROUND: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. CASE REPORT: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been...
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