Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. (Record no. 28025354)

MARC details
000 -LEADER
fixed length control field 01486 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517195909.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201809s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1473-5717
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1097/MCD.0000000000000214
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 Yu, Kris P T
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180903
245 00 - TITLE STATEMENT
Title Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical dysmorphology
Date of publication, distribution, etc. Apr 2018
300 ## - PHYSICAL DESCRIPTION
Extent 31-35 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
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 Developmental Disabilities
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 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 Mandibulofacial Dysostosis
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Peptide Elongation Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Isoforms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ribonucleoprotein, U5 Small Nuclear
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Luk, Ho-Ming
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gordon, Christopher T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fung, Genevieve
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Oufadem, Myriam
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garcia-Barcelo, Maria M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amiel, Jeanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chung, Brian H Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lo, Ivan F M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tiong, Yang Tan
773 0# - HOST ITEM ENTRY
Title Clinical dysmorphology
Related parts vol. 27
-- no. 2
-- p. 31-35
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1097/MCD.0000000000000214">https://doi.org/10.1097/MCD.0000000000000214</a>
Public note Available from publisher's website

No items available.