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Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype

dc.contributor.authorDI ROCCO, Maja
dc.contributor.authorZARA, Federico
dc.contributor.authorROSSI, Andrea
dc.contributor.authorBIANCHERI, Roberta
dc.contributor.authorMATHOT, Mikael
dc.contributor.authorNASSOGNE, Marie Cecile
dc.contributor.authorGAZZERRO, Elisabetta
dc.contributor.authorBugiani, Marianna
dc.contributor.authorvan Spaendonk, Resie
dc.contributor.authorSistermans, Erik A.
dc.contributor.authorMINETTI, Carlo
dc.contributor.authorvan der Knaap, Marjo S.
dc.contributor.authorWolf, Nicole I.
dc.contributor.authorErturk, Ozdem
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorYalcinkaya, Cengiz
dc.date.accessioned2021-03-04T18:27:16Z
dc.date.available2021-03-04T18:27:16Z
dc.date.issued2011
dc.identifier.citationBIANCHERI R., ZARA F., ROSSI A., MATHOT M., NASSOGNE M. C. , Yalcinkaya C., Erturk O., Tuysuz B., DI ROCCO M., GAZZERRO E., et al., "Hypomyelination and Congenital Cataract Broadening the Clinical Phenotype", ARCHIVES OF NEUROLOGY, cilt.68, ss.1191-1194, 2011
dc.identifier.issn0003-9942
dc.identifier.otherav_8ac2d49d-f589-49b2-9fce-5b5f2ce57178
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/94026
dc.identifier.urihttps://doi.org/10.1001/archneurol.2011.201
dc.description.abstractObjective: To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectNöroloji
dc.titleHypomyelination and Congenital Cataract Broadening the Clinical Phenotype
dc.typeMakale
dc.relation.journalARCHIVES OF NEUROLOGY
dc.contributor.departmentUniversity of Genoa , ,
dc.identifier.volume68
dc.identifier.issue9
dc.identifier.startpage1191
dc.identifier.endpage1194
dc.contributor.firstauthorID9759


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