Novel frameshift variant in gene SALL4 causing Okihiro syndrome
Author:
Funder
CEPID-FAPESP
CAPES
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference30 articles.
1. Merlin–rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat. Genet.,2002
2. Duane radial ray syndrome [Okihiro syndrome] maps to 20q13 and results from mutations in SALL4, a new member of the SAL family;Al-Baradie;Am. J. Hum. Genet.,2002
3. SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway;Böhm;Biochem. Biophys. Res. Commun.,2006
4. Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay;Borozdin;Hum. Mutat.,2007
5. Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum;Borozdin;J. Med. Genet.,2004
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2. A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum;BMC Medical Genomics;2023-02-24
3. A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: A case report and expanding the phenotypic spectrum;2023-01-18
4. A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome;Molecular Medicine Reports;2022-02-17
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