SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Basit Öğe Kaydı
dc.authorid0000-0001-7329-9179en_US
dc.authorid0000-0001-7191-2240
dc.contributor.authorBorozdin, Wiktor
dc.contributor.authorBoehm, Detlef
dc.contributor.authorLeipoldt, Michael
dc.contributor.authorWilhelm, C.
dc.contributor.authorReardon, William
dc.contributor.authorClayton-Smith, J.
dc.contributor.authorSılan, Fatma
dc.date.accessioned2021-06-23T19:17:53Z
dc.date.available2021-06-23T19:17:53Z
dc.date.issued2004
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractThe SALL genes, similar to the Drosophila gene spalt, 1 probably encode zinc-finger transcription factors. In humans, four such genes have been identified to date. Mutations at SALL1 on chromosome 16q12.1 have been associated with Townes-Brocks syndrome and related phenotypes,2 3 and mutations at SALL4 have been shown to be causative in patients with Okihiro/Duane-radial ray syndrome (OMIM No 607323).4 5 SALL26 and SALL37 have not yet been associated with human disease.en_US
dc.identifier.doi10.1136/jmg.2004.019901
dc.identifier.issn0022-2593
dc.identifier.issue9en_US
dc.identifier.pmid15342710en_US
dc.identifier.urihttps://doi.org/10.1136/jmg.2004.019901
dc.identifier.urihttps://hdl.handle.net/20.500.12491/5572
dc.identifier.volume41en_US
dc.identifier.wosWOS:000223635200019en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorSılan, Fatma
dc.language.isoenen_US
dc.publisherBmj Publishing Groupen_US
dc.relation.ispartofJournal Of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSyndromeen_US
dc.subjectDeletion
dc.subjectSALL4
dc.subjectHaploinsufficiency
dc.titleSALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanismen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
wiktor-borozdin.pdf
Boyut:
425.57 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam metin/ Full text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Dahili Tıp Bilimleri Bölümü Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu