|
|
| Research article summary (published 30 Aug 2009): |
[Case of Pitt-Hopkins syndrome]
Full Abstract
No abstract is currently available for this article. See 'Journal and Publication Information' further down the page for details that may assist you in locating this article in electronic or hard copy media. The 'Related articles' section also further down the page, where available, may show links to abstracts of articles covering similar topics.
Author information
Author/s: Fukumura, S (S); Tachi, N (N);
Journal and publication information
Publication Type: Case Reports; Journal Article
Journal: No to hattatsu. Brain and development (No To Hattatsu), published in Japan. (Language: jpn)
Reference: 2009-Sep; vol 41 (issue 5) : pp 365-7
Dates: Created 2009/09/21; Completed 2009/11/09;
PMID: 19764459, status: MEDLINE (last retrieved date: 11/9/2009)
Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.
External Links for this article
(including full text providers, if available):
Click Electronic Full-text Provider Links to see options for finding the electronic full text links to this article. Note there may be a subscription or fee required for access to the full text. See our FAQ for information on finding FREE full text articles.
This article may also be located in paper journal collections available in many libraries. Use the Journal and Publication Information above to find the full article.
MeSH headings (categories)
This article was linked to the MeSH Headings (categories) shown below.
Note: Bold headings indicate primary MeSH headings or qualifiers.
Associated Chemicals: ASCL1 protein, human (0) ; Basic Helix-Loop-Helix Transcription Factors (0) ; DNA-Binding Proteins (0) ; TCF4 protein, human (0) ; Transcription Factors (0)Related articles
These are the most related articles currently in our database:
- Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
24 Aug 2008 - Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
May 2007 - Further delineation of the 10p deletion syndrome.
29 Apr 1984 - Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy.
28 Feb 1980 - Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
29 Sep 1997 - Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.
30 Jul 2004 - Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
21 Mar 2007 - CHARGE syndrome.
5 Sep 2006 - Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
30 Dec 1995 - Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.
30 Dec 1989
Related Article Map
Legend:
- FREE Full text Article.
- Abstract only.
- Title only. More help.
See a larger map of 100+ related articles.