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Townes-Brocks syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
DACT1
SALL1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
beta-catenin binding
digestive tract development
RNA polymerase II transcription factor binding
neural tube development
regulation of animal organ morphogenesis
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Multiple malformation syndrome with facial-limb defects as major feature
OMIM - Multisystem Complex Disorders
OMIM - Congenital malformation syndrome
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Literature
Most Relevant Literature
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary centr…
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neura…
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SA…
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL…
Phenotypic variability in a family with Townes-Brocks syndrome.
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Clinical Trials
Most Relevant Clinical Trials
Clinical and Genetic Studies of VACTERL Association
Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)
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