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A new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by carboxypeptidase D mutations

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dc.contributor.coauthorAltunoğlu, U.
dc.contributor.coauthorLaupheimer, S.
dc.contributor.coauthorBonnard, C.
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorReversade, Bruno
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:21:01Z
dc.date.issued2018
dc.description.abstractBAKILACAK
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10821
dc.identifier.wos489312604082
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectBiochemistry
dc.subjectMolecular Biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleA new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by carboxypeptidase D mutations
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorReversade, Bruno
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relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
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