Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. (Record no. 23381235)

MARC details
000 -LEADER
fixed length control field 01440 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516185550.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201504s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1552-4833
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.a.36237
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 Woods, Susan A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150413
245 00 - TITLE STATEMENT
Title Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Jan 2014
300 ## - PHYSICAL DESCRIPTION
Extent 251-8 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Autopsy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element De Lange Syndrome
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Diagnosis, Differential
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element E1A-Associated p300 Protein
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Facies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fatal Outcome
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 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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
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 Rubinstein-Taybi Syndrome
General subdivision diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Robinson, Haynes B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohler, Lisa J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Agamanolis, Dimitris
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sterbenz, George
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khalifa, Mohamed
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 164A
-- no. 1
-- p. 251-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.36237">https://doi.org/10.1002/ajmg.a.36237</a>
Public note Available from publisher's website

No items available.