A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome

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dc.contributor.authorGuzoglu, Nilufer
dc.contributor.authorAslan, Mustafa K.
dc.contributor.authorGunay, Yasemin D.
dc.contributor.authorAtasoy, Pinar
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorAliefendioglu, Didem
dc.date.accessioned2026-02-06T18:48:58Z
dc.date.issued2020
dc.departmentDoğu Akdeniz Üniversitesi
dc.description.abstract[Abstract Not Available]
dc.identifier.doi10.1097/MCD.0000000000000317
dc.identifier.endpage154
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue3
dc.identifier.orcid0000-0002-5603-8265
dc.identifier.orcid0000-0003-2786-1911
dc.identifier.pmid32073407
dc.identifier.scopus2-s2.0-85086051143
dc.identifier.scopusqualityQ3
dc.identifier.startpage152
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000317
dc.identifier.urihttps://hdl.handle.net/11129/14659
dc.identifier.volume29
dc.identifier.wosWOS:000545915900008
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakScopus
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_20260204
dc.subjectCentral Hypoventilation Syndrome
dc.subjectPhenotype
dc.subjectChildren
dc.titleA novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome
dc.typeArticle

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