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Keywords: Townes-Brocks syndrome
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Journal Articles
Journal Articles
Journal Articles
Journal: Development
Development (2002) 129 (8): 1967–1974.
Published: 15 April 2002
.... Furthermore, the spalt / spalt-related null antennae are defective in hearing. Hearing defects are also associated with the human diseases Split Hand/Split Foot Malformation and Townes-Brocks Syndrome, which are linked to human homologs of Distal-less and spalt , respectively. We therefore propose...
Journal Articles
Journal: Development
Development (2001) 128 (16): 3105–3115.
Published: 15 August 2001
... ( sal ); heterozygous mutations in SALL1 in humans lead to Townes-Brocks syndrome. We have isolated a mouse homolog of SALL1 ( Sall1 ) and found that mice deficient in Sall1 die in the perinatal period and that kidney agenesis or severe dysgenesis are present. Sall1 is expressed in the metanephric...