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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📜 SIMILAR VOLUMES
Mutations in SALL1 lead to the dominant multiorgan congenital anomalies that define Townes-Brocks syndrome (TBS). The majority of these mutations result in premature termination codons that would be predicted to trigger nonsense-mediated decay (NMD) of mutant mRNA and cause haploinsufficiency. Our p
Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster. T
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