Linked Life Data

20656880

Source:http://linkedlifedata.com/resource/pubmed/id/20656880

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2010-7-26
pubmed:abstractText
Cohen syndrome is a rare autosomal recessive inherited disorder that results from mutations of the VPS13B gene. Clinical features consist of a combination of mental retardation, facial dysmorphism, postnatal microcephaly, truncal obesity, slender extremities, joint hyperextensibility, myopia, progressive chorioretinal dystrophy, and intermittent neutropenia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1468-6244
pubmed:author
pubmed-author:AfenjarAlexandraA, pubmed-author:AralBernardB, pubmed-author:BOREVAL ILI, pubmed-author:BonneauDominiqueD, pubmed-author:Cormier-DaireValérieV, pubmed-author:DavidAlbertA, pubmed-author:DelrueMarie-AngeMA, pubmed-author:DienneGwenaelleG, pubmed-author:DonzelAnneA, pubmed-author:DorayBéréniceB, pubmed-author:EderyPatrickP, pubmed-author:El ChehadehSalimaS, pubmed-author:FaivreLaurenceL, pubmed-author:Frances-GuidetAnne-MarieAM, pubmed-author:GigotNadègeN, pubmed-author:HeronDelphineD, pubmed-author:HolderMurielM, pubmed-author:HuetFrédéricF, pubmed-author:JacquetteAuréliaA, pubmed-author:LacombeDidierD, pubmed-author:LeheupBrunoB, pubmed-author:Masurel-PauletAliceA, pubmed-author:MonclaAnneA, pubmed-author:PhilipNicoleN, pubmed-author:PinsonLucileL, pubmed-author:RioMarlèneM, pubmed-author:SardaPierreP, pubmed-author:TeyssierJean-RaymondJR, pubmed-author:Thauvin-RobinetChristelC, pubmed-author:VerloesAlainA, pubmed-author:VigneronJacquelineJ
pubmed:issnType
Electronic
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
549-53
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
pubmed:affiliation
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU Dijon, Université de Dijon, France.
pubmed:publicationType
Journal Article