SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
Yükleniyor...
Dosyalar
Tarih
2004
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Bmj Publishing Group
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The 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.
Açıklama
Anahtar Kelimeler
Syndrome, Deletion, SALL4, Haploinsufficiency
Kaynak
Journal Of Medical Genetics
WoS Q Değeri
Q1
Scopus Q Değeri
Cilt
41
Sayı
9
