000 01586 a2200421 4500
005 20250517125536.0
264 0 _c20180209
008 201802s 0 0 eng d
022 _a1573-7292
024 7 _a10.1007/s10689-016-9958-5
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFremerey, Julia
245 0 0 _aEmbryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.
_h[electronic resource]
260 _bFamilial cancer
_c07 2017
300 _a401-405 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBrain Neoplasms
_xgenetics
650 0 4 _aChild
650 0 4 _aDEAD-box RNA Helicases
_xgenetics
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aNeoplastic Syndromes, Hereditary
_xgenetics
650 0 4 _aNeuroectodermal Tumors, Primitive
_xgenetics
650 0 4 _aPulmonary Blastoma
_xgenetics
650 0 4 _aRhabdomyosarcoma, Embryonal
_xgenetics
650 0 4 _aRibonuclease III
_xgenetics
650 0 4 _aUrinary Bladder Neoplasms
_xgenetics
700 1 _aBalzer, Stefan
700 1 _aBrozou, Triantafyllia
700 1 _aSchaper, Joerg
700 1 _aBorkhardt, Arndt
700 1 _aKuhlen, Michaela
773 0 _tFamilial cancer
_gvol. 16
_gno. 3
_gp. 401-405
856 4 0 _uhttps://doi.org/10.1007/s10689-016-9958-5
_zAvailable from publisher's website
999 _c26648456
_d26648456