14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability. (Record no. 25717727)

MARC details
000 -LEADER
fixed length control field 01537 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517080605.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201711s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1744-5094
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.3109/13816810.2015.1059463
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 Jones, Gabriela E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20171117
245 00 - TITLE STATEMENT
Title 14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Ophthalmic genetics
Date of publication, distribution, etc. 09 2016
300 ## - PHYSICAL DESCRIPTION
Extent 352-3 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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Aberrations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 14
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Limb Deformities, Congenital
General subdivision genetics
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 Nervous System Malformations
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oligonucleotide Array Sequence Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Otx Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urogenital Abnormalities
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Robertson, Lisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Warman, Paul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Craft, Emily V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cresswell, Lara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vasudevan, Pradeep C
773 0# - HOST ITEM ENTRY
Title Ophthalmic genetics
Related parts vol. 37
-- no. 3
-- p. 352-3
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.3109/13816810.2015.1059463">https://doi.org/10.3109/13816810.2015.1059463</a>
Public note Available from publisher's website

No items available.