Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. 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
2. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome;Blanck;J Med Genet,2000
3. Townes-Brocks syndrome: Twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region;Botzenhart;Hum Mutat,2007
4. Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes-Brocks syndrome;Buck;Mech Dev,2001
5. Townes-Brocks syndrome in two mentally retarded youngsters;Cameron;Am J Med Genet,1991
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4. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature;American Journal of Medical Genetics Part A;2012-02-03
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