A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. (Record no. 20981404)

MARC details
000 -LEADER
fixed length control field 01527 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516044439.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201201s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1744-5094
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.3109/13816810.2011.592176
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 Aliferis, Konstantinos
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120113
245 00 - TITLE STATEMENT
Title A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Ophthalmic genetics
Date of publication, distribution, etc. Nov 2011
300 ## - PHYSICAL DESCRIPTION
Extent 250-5 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Branchio-Oto-Renal Syndrome
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Choroid
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Coloboma
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 Genotype
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 Male
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 Middle Aged
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 Retina
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factor AP-2
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 Stoetzel, Corinne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pelletier, Valérie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hellé, Sophie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Angioï-Duprez, Karine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vigneron, Jacqueline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leheup, Bruno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marion, Vincent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dollfus, Hélène
773 0# - HOST ITEM ENTRY
Title Ophthalmic genetics
Related parts vol. 32
-- no. 4
-- p. 250-5
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.3109/13816810.2011.592176">https://doi.org/10.3109/13816810.2011.592176</a>
Public note Available from publisher's website

No items available.