12764678

Source:http://linkedlifedata.com/resource/pubmed/id/12764678

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0010278, umls-concept:C0018270, umls-concept:C0039082, umls-concept:C0205123, umls-concept:C0391889, umls-concept:C0596392, umls-concept:C2348519
pubmed:issue	3
pubmed:dateCreated	2003-5-23
pubmed:abstractText	The FGFR3-associated coronal synostosis syndrome (Muenke craniosynostosis) is caused by a point mutation (C749G) on the FGFR3 gene resulting in a Pro250Arg substitution.
pubmed:language	ger
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9716576
pubmed:citationSubset	D
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Arginine, http://linkedlifedata.com/resource/pubmed/chemical/FGFR3 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Proline, http://linkedlifedata.com/resource/pubmed/chemical/Protein-Tyrosine Kinases, http://linkedlifedata.com/resource/pubmed/chemical/Receptor, Fibroblast Growth..., http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Fibroblast Growth Factor
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1432-9417
pubmed:author	pubmed-author:Bie?KK, pubmed-author:EulertSS, pubmed-author:Phan TheLL, pubmed-author:ReinhartEE, pubmed-author:ReutherJJ, pubmed-author:WürzlerKK
pubmed:issnType	Print
pubmed:volume	7
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	132-7
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:12764678-Amino Acid Substitution, pubmed-meshheading:12764678-Arginine, pubmed-meshheading:12764678-Cephalometry, pubmed-meshheading:12764678-Child, pubmed-meshheading:12764678-Child, Preschool, pubmed-meshheading:12764678-Craniosynostoses, pubmed-meshheading:12764678-Female, pubmed-meshheading:12764678-Follow-Up Studies, pubmed-meshheading:12764678-Frontal Bone, pubmed-meshheading:12764678-Humans, pubmed-meshheading:12764678-Infant, pubmed-meshheading:12764678-Male, pubmed-meshheading:12764678-Orbit, pubmed-meshheading:12764678-Point Mutation, pubmed-meshheading:12764678-Postoperative Complications, pubmed-meshheading:12764678-Proline, pubmed-meshheading:12764678-Protein-Tyrosine Kinases, pubmed-meshheading:12764678-Receptor, Fibroblast Growth Factor, Type 3, pubmed-meshheading:12764678-Receptors, Fibroblast Growth Factor
pubmed:year	2003
pubmed:articleTitle	[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
pubmed:affiliation	Universitätsklinik für Mund-, Kiefer- und Gesichtschirurgie, Universität Würzburg, Pleicherwall 2, 97070, Würzburg. reinhart@mail.uni-wuerzburg.de
pubmed:publicationType	Journal Article, English Abstract