Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F06%3A145" target="_blank" >RIV/00216208:11130/06:145 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
Original language description
Rubinstein-Taybi syndrome (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical facial and skeletal abnormalities
Czech name
Důkaz pro nový syndrom sousedních genů, delece chromosomu 16p13.3 neboli těžký Rubinstein- Taybi syndrom
Czech description
Rubinstein-Taybi syndrom (RSTS) je dobře známý
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NR7916" target="_blank" >NR7916: Molecular basis of congenital microcephaly - using molecular genetics and molecular cytogenetic methods for detection of etiology of different types of microcephaly and evaluation of clinical and genetic prognosis</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Human Genetics
ISSN
0340-6717
e-ISSN
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Volume of the periodical
120
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
179-186
UT code for WoS article
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EID of the result in the Scopus database
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