Fremerey, Julia

Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. [electronic resource] - Familial cancer 07 2017 - 401-405 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1573-7292

10.1007/s10689-016-9958-5 doi


Brain Neoplasms--genetics
Child
DEAD-box RNA Helicases--genetics
Female
Frameshift Mutation
Genetic Predisposition to Disease--genetics
Heterozygote
Humans
Neoplastic Syndromes, Hereditary--genetics
Neuroectodermal Tumors, Primitive--genetics
Pulmonary Blastoma--genetics
Rhabdomyosarcoma, Embryonal--genetics
Ribonuclease III--genetics
Urinary Bladder Neoplasms--genetics