A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. (Record no. 30281644)

MARC details
000 -LEADER
fixed length control field 01541 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518070010.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202104s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1476-5438
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/s41431-019-0539-6
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 Beauregard-Lacroix, Eliane
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20210430
245 00 - TITLE STATEMENT
Title A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. 04 2020
300 ## - PHYSICAL DESCRIPTION
Extent 461-468 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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
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 Fetal Growth Retardation
General subdivision genetics
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Progeria
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Domains
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Polymerase III
General subdivision chemistry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Salian, Smrithi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kim, Hyunyun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ehresmann, Sophie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name DʹAmours, Guylaine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gauthier, Julie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Saillour, Virginie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bernard, Geneviève
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mitchell, Grant A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soucy, Jean-François
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Michaud, Jacques L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Campeau, Philippe M
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 28
-- no. 4
-- p. 461-468
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/s41431-019-0539-6">https://doi.org/10.1038/s41431-019-0539-6</a>
Public note Available from publisher's website

No items available.