Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (Record no. 20147887)

MARC details
000 -LEADER
fixed length control field 01503 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516001642.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201011s 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.33649
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 Mansur, Ayse Tulin
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20101116
245 00 - TITLE STATEMENT
Title Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Oct 2010
300 ## - PHYSICAL DESCRIPTION
Extent 2628-33 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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 Diagnosis, Differential
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eyebrows
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family
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 Genetic Markers
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hair
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hair Diseases
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 Hypotrichosis
General subdivision diagnosis
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 Microscopy, Electron, Scanning
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 Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Turkey
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elcioglu, Nursel H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Redler, Silke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Serdar, Zehra A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cetinel, Sule
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Betz, Regina C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Akarsu, Nurten A
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 152A
-- no. 10
-- p. 2628-33
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.33649">https://doi.org/10.1002/ajmg.a.33649</a>
Public note Available from publisher's website

No items available.