No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 140A; no. 8; pp. 903 - 905
Main Authors:	Bottani, Armand, Pardo, Bruno, Bouchardy, Isabelle, Schoumans, Jacqueline, Toutain, Annick, Conrad, Bernard
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 15-04-2006 Wiley-Liss
Subjects:	Abnormalities, Multiple - genetics Biological and medical sciences DNA Mutational Analysis Facies Humans Medical genetics Medical sciences Medicin och hälsovetenskap 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 Kabuki make-up syndrome Complex syndrome Malformation Nitric oxide
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Bibliography:	ArticleID:AJMG31168 ark:/67375/WNG-P6W4XRPV-K istex:9D82DCC1CD4370A807563E79F78F82F03D5AB79F Bruno Pardo and Isabelle Bouchardy contributed equally to this work. SourceType-Scholarly Journals-1 ObjectType-Correspondence-1 content type line 23 ObjectType-Review-2 ObjectType-Case Study-4 ObjectType-Report-3 ObjectType-Article-5
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.31168