A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. (Record no. 27840880)

MARC details
000 -LEADER
fixed length control field 01567 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517190125.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201808s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1878-0849
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ejmg.2017.11.018
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 Cheng, S W
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180827
245 00 - TITLE STATEMENT
Title A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of medical genetics
Date of publication, distribution, etc. Apr 2018
300 ## - PHYSICAL DESCRIPTION
Extent 219-224 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element ADAMTS Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Bone Diseases, Developmental
General subdivision genetics
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 Child, Preschool
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 Fibrillin-1
General subdivision genetics
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 Heterozygote
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 Limb Deformities, Congenital
General subdivision genetics
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
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 Weill-Marchesani Syndrome
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Luk, Ho-Ming
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chu, YoYo W Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tung, Yuet-Ling
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kwan, Elanie Yin-Wah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lo, Ivan Fai-Man
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chung, Brian Hon-Yin
773 0# - HOST ITEM ENTRY
Title European journal of medical genetics
Related parts vol. 61
-- no. 4
-- p. 219-224
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ejmg.2017.11.018">https://doi.org/10.1016/j.ejmg.2017.11.018</a>
Public note Available from publisher's website

No items available.