Novel mutation in MASP1 gene in a new family with 3MC syndrome

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dc.contributor.authorBasdemirci, Muserref
dc.contributor.authorSen, Askin
dc.contributor.authorCeylaner, Serdar
dc.date.accessioned2026-08-12T17:05:13Z
dc.date.issued2019
dc.departmentFırat Üniversitesi
dc.description.abstract[Abstract Not Available]
dc.identifier.doi10.1097/MCD.0000000000000256
dc.identifier.endpage93
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue2
dc.identifier.orcid0000-0003-2786-1911
dc.identifier.orcid0000-0001-9012-9307
dc.identifier.pmid30601195
dc.identifier.scopus2-s2.0-85062707575
dc.identifier.scopusqualityQ3
dc.identifier.startpage91
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000256
dc.identifier.urihttps://hdl.handle.net/11508/49034
dc.identifier.volume28
dc.identifier.wosWOS:000462177300009
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofClinical Dysmorphology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20260511
dc.subjectMalpuech-Syndrome
dc.subjectDefect
dc.titleNovel mutation in MASP1 gene in a new family with 3MC syndrome
dc.typeArticle

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