Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34426/fullpdf
Reference34 articles.
1. Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation;Albrecht;Am J Med Genet Part A,2004
2. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes;Bardakjian;BMC Med Genet,2009
3. The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome);Barry;Ophthalmic Genet,2008
4. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome;Blanck;J Med Genet,2000
5. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome;Borozdin;Hum Mutat,2006
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