A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. (Record no. 28479787)

MARC details
000 -LEADER
fixed length control field 01572 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517221344.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201910s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1399-0004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/cge.13388
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 Ito, Y A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20191028
245 00 - TITLE STATEMENT
Title A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. 10 2018
300 ## - PHYSICAL DESCRIPTION
Extent 303-312 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 Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alopecia
General subdivision genetics
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 Facies
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 Genes, Recessive
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Growth Disorders
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 Kidney
General subdivision abnormalities
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 Membrane Transport Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microcephaly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smith, A C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kernohan, K D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pena, I A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ahmed, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McDonell, L M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beaulieu, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bulman, D E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smidt, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sawyer, S L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dyment, D A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boycott, K M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clericuzio, C L
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 94
-- no. 3-4
-- p. 303-312
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/cge.13388">https://doi.org/10.1111/cge.13388</a>
Public note Available from publisher's website

No items available.