12414825

Source:http://linkedlifedata.com/resource/pubmed/id/12414825

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0023745, umls-concept:C0039082, umls-concept:C0185027, umls-concept:C1744681, umls-concept:C1858726
pubmed:issue	11
pubmed:dateCreated	2002-11-4
pubmed:databankReference	http://linkedlifedata.com/resource/pubmed/xref/OMIM/248800, http://linkedlifedata.com/resource/pubmed/xref/OMIM/604168
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Nov
pubmed:issn	1468-6244
pubmed:author	pubmed-author:ChaigneDD, pubmed-author:ChristmannDD, pubmed-author:DollfusHH, pubmed-author:FlamentJJ, pubmed-author:FloroLL, pubmed-author:GoodVV, pubmed-author:KoenigMM, pubmed-author:Lagier-TourenneCC, pubmed-author:MandelJ-LJL, pubmed-author:MohrMM, pubmed-author:SUC
pubmed:issnType	Electronic
pubmed:volume	39
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	838-43
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:12414825-Abnormalities, Multiple, pubmed-meshheading:12414825-Adolescent, pubmed-meshheading:12414825-Adult, pubmed-meshheading:12414825-Ataxia, pubmed-meshheading:12414825-Cataract, pubmed-meshheading:12414825-Child, pubmed-meshheading:12414825-Child, Preschool, pubmed-meshheading:12414825-Chromosomes, Human, Pair 18, pubmed-meshheading:12414825-Diagnosis, Differential, pubmed-meshheading:12414825-Face, pubmed-meshheading:12414825-Family Health, pubmed-meshheading:12414825-Female, pubmed-meshheading:12414825-Genetic Linkage, pubmed-meshheading:12414825-Growth Disorders, pubmed-meshheading:12414825-Humans, pubmed-meshheading:12414825-Male, pubmed-meshheading:12414825-Microsatellite Repeats, pubmed-meshheading:12414825-Nervous System Diseases, pubmed-meshheading:12414825-Pedigree, pubmed-meshheading:12414825-Psychomotor Disorders, pubmed-meshheading:12414825-Syndrome
pubmed:year	2002
pubmed:articleTitle	Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
pubmed:publicationType	Letter, Case Reports, Research Support, Non-U.S. Gov't