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)
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Braunholz, Diana |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Concepción Gil-Rodríguez, María |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Decroos, Christophe |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wilde, Jonathan J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Fincher, Christopher T |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kaur, Maninder |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bando, Masashige |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Amor, David J |
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Personal name | Atwal, Paldeep S |
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Personal name | Bahlo, Melanie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bowman, Christine M |
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Personal name | Bradley, Jacquelyn J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Brunner, Han G |
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Personal name | Clark, Dinah |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Del Campo, Miguel |
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Personal name | Di Donato, Nataliya |
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Personal name | Diakumis, Peter |
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Personal name | Dubbs, Holly |
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Personal name | Dyment, David A |
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Personal name | Eckhold, Juliane |
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Personal name | Ernst, Sarah |
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Personal name | Ferreira, Jose C |
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Personal name | Francey, Lauren J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gehlken, Ulrike |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Guillén-Navarro, Encarna |
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Personal name | Gyftodimou, Yolanda |
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Personal name | Hall, Bryan D |
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Personal name | Hennekam, Raoul |
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Personal name | Hudgins, Louanne |
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Personal name | Hullings, Melanie |
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Personal name | Hunter, Jennifer M |
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Personal name | Yntema, Helger |
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Personal name | Innes, A Micheil |
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Personal name | Kline, Antonie D |
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Personal name | Krumina, Zita |
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Personal name | Lee, Hane |
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Personal name | Leppig, Kathleen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lynch, Sally Ann |
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Personal name | Mallozzi, Mark B |
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Personal name | Mannini, Linda |
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Personal name | McKee, Shane |
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Personal name | Mehta, Sarju G |
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Personal name | Micule, Ieva |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mohammed, Shehla |
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Personal name | Moran, Ellen |
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Personal name | Mortier, Geert R |
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Personal name | Moser, Joe-Ann S |
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Personal name | Noon, Sarah E |
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Personal name | Nozaki, Naohito |
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Personal name | Nunes, Luis |
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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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Williamson, Kathleen |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wilson, Louise C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hakonarson, Hakon |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Quintero-Rivera, Fabiola |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wierzba, Jolanta |
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Personal name | Musio, Antonio |
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Personal name | Gillessen-Kaesbach, Gabriele |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ramos, Feliciano J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jackson, Laird G |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Shirahige, Katsuhiko |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pié, Juan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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 |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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.