No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Details
Serval ID
serval:BIB_F9FEEA399828
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Journal
American Journal of Medical Genetics. Part A
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Publication state
Published
Issued date
2006
Volume
140
Number
8
Pages
903-905
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't ; ReviewPublication Status: ppublish. PDF type: Research Letter
Keywords
Abnormalities, Multiple/genetics, DNA Mutational Analysis, Facies, Humans, Protein-Serine-Threonine Kinases/genetics, Protein-Serine-Threonine Kinases/physiology, Receptors, Transforming Growth Factor beta/genetics, Receptors, Transforming Growth Factor beta/physiology, Signal Transduction/genetics, Signal Transduction/physiology, Syndrome
Pubmed
Web of science
Create date
17/09/2011 10:31
Last modification date
20/08/2019 17:25
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