Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. (Record no. 8938483)

MARC details
000 -LEADER
fixed length control field 01576 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513105233.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199703s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1018-4813
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1159/000472215
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 Pulleyn, L J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19970304
245 00 - TITLE STATEMENT
Title Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. 1996
300 ## - PHYSICAL DESCRIPTION
Extent 283-91 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 Craniosynostoses
General subdivision diagnostic imaging
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 Infant
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 Pedigree
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 Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Radiography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor Protein-Tyrosine Kinases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Fibroblast Growth Factor, Type 2
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Fibroblast Growth Factor
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reardon, W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilkes, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rutland, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jones, B M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hayward, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hall, C M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brueton, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chun, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lammer, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malcolm, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Winter, R M
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 4
-- no. 5
-- p. 283-91
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1159/000472215">https://doi.org/10.1159/000472215</a>
Public note Available from publisher's website

No items available.