Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. (Record no. 22641545)

MARC details
000 -LEADER
fixed length control field 01413 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516143308.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201503s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1399-0004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/cge.12125
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 Feberwee, H E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150330
245 00 - TITLE STATEMENT
Title Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Feb 2014
300 ## - PHYSICAL DESCRIPTION
Extent 194-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Letter
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cataract
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
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 Heart Septal Defects
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microphthalmos
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proto-Oncogene Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Repressor Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Feenstra, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Oberoi, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sama, I E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ockeloen, C W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clum, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Slavotinek, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kuijpers, M A R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dooijes, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kuijpers-Jagtman, A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kleefstra, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carels, C E L
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 85
-- no. 2
-- p. 194-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/cge.12125">https://doi.org/10.1111/cge.12125</a>
Public note Available from publisher's website

No items available.