Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. (Record no. 23429133)

MARC details
000 -LEADER
fixed length control field 04260 a2201405 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516191152.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201501s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2083
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/ddu002
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 Kaiser, Frank J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150112
245 00 - TITLE STATEMENT
Title Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Jun 2014
300 ## - PHYSICAL DESCRIPTION
Extent 2888-900 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
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 Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cranial Fontanelles
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element De Lange Syndrome
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye Abnormalities
General subdivision enzymology
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, X-Linked
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Histone Deacetylases
General subdivision chemistry
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 Hypertelorism
General subdivision enzymology
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Repressor Proteins
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Alignment
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ansari, Morad
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Personal name Braunholz, Diana
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Personal name Concepción Gil-Rodríguez, María
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Personal name Decroos, Christophe
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Personal name Wilde, Jonathan J
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Personal name Fincher, Christopher T
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Personal name Kaur, Maninder
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Personal name Bando, Masashige
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Personal name Amor, David J
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Personal name Atwal, Paldeep S
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Personal name Bahlo, Melanie
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Personal name Bowman, Christine M
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Personal name Brunner, Han G
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Personal name Dyment, David A
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Personal name Ernst, Sarah
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Personal name Francey, Lauren J
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Personal name Gehlken, Ulrike
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Personal name Guillén-Navarro, Encarna
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Personal name Gyftodimou, Yolanda
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Personal name Mehta, Sarju G
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Personal name Micule, Ieva
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Personal name Noon, Sarah E
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Personal name Pappas, John G
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Personal name Penney, Lynette S
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Personal name Pérez-Aytés, Antonio
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Personal name Petersen, Michael B
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Personal name Puisac, Beatriz
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Personal name Revencu, Nicole
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Personal name Roeder, Elizabeth
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Personal name Saitta, Sulagna
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Personal name Scheuerle, Angela E
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Personal name Schindeler, Karen L
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Personal name Siu, Victoria M
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Personal name Stark, Zornitza
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Personal name Strom, Samuel P
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Personal name Thiese, Heidi
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Personal name Vater, Inga
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Personal name Willems, Patrick
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Personal name Williamson, Kathleen
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Personal name Wilson, Louise C
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Personal name Hakonarson, Hakon
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Personal name Quintero-Rivera, Fabiola
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Personal name Wierzba, Jolanta
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Personal name Musio, Antonio
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Personal name Gillessen-Kaesbach, Gabriele
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Personal name Ramos, Feliciano J
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Personal name Jackson, Laird G
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Personal name Shirahige, Katsuhiko
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Personal name Pié, Juan
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Personal name Christianson, David W
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Personal name Krantz, Ian D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fitzpatrick, David R
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Personal name Deardorff, Matthew A
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 23
-- no. 11
-- p. 2888-900
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddu002">https://doi.org/10.1093/hmg/ddu002</a>
Public note Available from publisher's website

No items available.