No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Détails
ID Serval
serval:BIB_F9FEEA399828
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Périodique
American Journal of Medical Genetics. Part A
ISSN
1552-4825 (Print)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2006
Volume
140
Numéro
8
Pages
903-905
Langue
anglais
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't ; ReviewPublication Status: ppublish. PDF type: Research Letter
Mots-clé
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
Création de la notice
17/09/2011 10:31
Dernière modification de la notice
20/08/2019 17:25
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