Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. (Record no. 18949003)

MARC details
000 -LEADER
fixed length control field 01649 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515174409.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200909s 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.32889
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 Graul-Neumann, Luitgard M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090923
245 00 - TITLE STATEMENT
Title Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Jul 2009
300 ## - PHYSICAL DESCRIPTION
Extent 1487-93 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain Injuries
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromogranins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Congenital Hypothyroidism
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniofacial Dysostosis
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fatal Outcome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element GTP-Binding Protein alpha Subunits, Gs
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
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 Hydrocephalus
General subdivision complications
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 Intracranial Hemorrhages
General subdivision complications
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pseudohypoparathyroidism
General subdivision complications
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bach, Alexia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Albani, Michael
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ringe, Hannelore
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weimann, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kress, Wolfram
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hiort, Olaf
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bartsch, Oliver
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 149A
-- no. 7
-- p. 1487-93
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.32889">https://doi.org/10.1002/ajmg.a.32889</a>
Public note Available from publisher's website

No items available.