Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. (Record no. 21891152)

MARC details
000 -LEADER
fixed length control field 01654 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516100422.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201304s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1432-1076
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s00431-012-1776-7
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 Schlump, Jan-Ulrich
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130425
245 00 - TITLE STATEMENT
Title Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of pediatrics
Date of publication, distribution, etc. Nov 2012
300 ## - PHYSICAL DESCRIPTION
Extent 1611-8 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
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 Genetic Markers
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, Newborn
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 diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nuclear Proteins
General subdivision genetics
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 Phosphoproteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stein, Anja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hehr, Ute
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Karen, Tanja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Möller-Hartmann, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elcioglu, Nursel H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bogdanova, Nadja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Woike, Hartmut Fritz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lohmann, Dietmar R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Felderhoff-Mueser, Ursula
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Linz, Annette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wieczorek, Dagmar
773 0# - HOST ITEM ENTRY
Title European journal of pediatrics
Related parts vol. 171
-- no. 11
-- p. 1611-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s00431-012-1776-7">https://doi.org/10.1007/s00431-012-1776-7</a>
Public note Available from publisher's website

No items available.