Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. (Record no. 26648456)

MARC details
000 -LEADER
fixed length control field 01586 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517125536.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201802s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-7292
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10689-016-9958-5
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Fremerey, Julia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180209
245 00 - TITLE STATEMENT
Title Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Familial cancer
Date of publication, distribution, etc. 07 2017
300 ## - PHYSICAL DESCRIPTION
Extent 401-405 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DEAD-box RNA Helicases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Frameshift Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neoplastic Syndromes, Hereditary
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neuroectodermal Tumors, Primitive
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pulmonary Blastoma
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Rhabdomyosarcoma, Embryonal
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ribonuclease III
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urinary Bladder Neoplasms
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Balzer, Stefan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brozou, Triantafyllia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schaper, Joerg
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Borkhardt, Arndt
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kuhlen, Michaela
773 0# - HOST ITEM ENTRY
Title Familial cancer
Related parts vol. 16
-- no. 3
-- p. 401-405
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10689-016-9958-5">https://doi.org/10.1007/s10689-016-9958-5</a>
Public note Available from publisher's website

No items available.