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Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes–Brocks syndrome

✍ Scribed by Anja Buck; Andreas Kispert; Jürgen Kohlhase


Book ID
118602145
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
576 KB
Volume
104
Category
Article
ISSN
0925-4773

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Townes-Brocks syndrome (TBS) is an autosomal dominant malformation syndrome characterized by renal, anal, ear, and thumb anomalies caused by SALL1 mutations. To date, 36 SALL1 mutations have been described in TBS patients. All but three of those, namely p.R276X, p.S372X, and c.1404dupG, have been fo