Publication:
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.departmentN/A
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorReversade, Bruno
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid7945
dc.contributor.yokid274182
dc.date.accessioned2024-11-09T23:21:01Z
dc.date.issued2018
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume26
dc.identifier.doiN/A
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.uriN/A
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10821
dc.identifier.wos489312604082
dc.keywordsN/A
dc.languageEnglish
dc.publisherNature Publishing Group
dc.sourceEuropean Journal of Human Genetics
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.authorid0000-0003-0376-499X
local.contributor.authorid0000-0002-4070-7997
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorReversade, Bruno

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