D012868DisordersC16.131.831C17.800.8048110.990811Skin Abnormalitiesplugins:TwitterTwitterprns:emailEncryptedemail addressprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:pluginSearchableDataProfilesRNS Plugin Searchable Dataprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonPediatrics-Allergy & Immunology28485813Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli MClinical geneticsSpectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. Clin Genet. 2017 Dec; 92(6):624-631.Clin Genet2017-09-04T00:00:002017Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.30580480Moog U, Dobyns WBAmerican journal of medical genetics. Part C, Seminars in medical geneticsAn update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):414-422.Am J Med Genet C Semin Med Genet2018-12-01T00:00:002018An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome.1.049150.01758718research area of0.691350.06746748subject area forWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR Ophthalmology and Visual Science18950397Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SLPediatric dermatologyMicrophthalmia with linear skin defects: a case report and review. Pediatr Dermatol. 2008 Sep-Oct; 25(5):548-52.Pediatr Dermatol2008-09-01T00:00:002008Microphthalmia with linear skin defects: a case report and review.http://ophthalmology.uchicago.eduThe University of Chicago Department of Ophthalmology@UChicagoOVSHuman GeneticsUniversity of ChicagoSarahSteinxHF9DqgbOfnamXNnYUHhvWD+6g==Sarah Stein41.78927490000000-87.601250000000001307Stein, SarahProfessorMarkGreenwaldMark Greenwald41.78927490000000-87.601250000000001404Greenwald, MarkClinical AssociateArlene M.Ruiz De LuzuriagaArlene M. Ruiz De Luzuriaga41.78927490000000-87.601250000000001463Ruiz De Luzuriaga, Arlene M.Assistant Professortrue1PROFESSOR PROFESSOR true1ProfessorProfessortrue1Assistant ProfessorAssistant Professortrue1Clinical AssociateClinical Associatetrue1Associate ProfessorAssociate Professor9129744Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WBAmerican journal of medical geneticsMacrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997 May 02; 70(1):67-73.Am J Med Genet1997-05-02T00:00:001997Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.ChristinaCiaccioChristina Ciaccio0.000000000000000.000000000000003181Ciaccio, ChristinaAssociate Professor27236920Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOMAmerican journal of human geneticsA Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265.Am J Hum Genet2016-05-26T00:00:002016A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Medicine-Dermatology